#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
MCM3AP	8888	broad.mit.edu	37	21	47697544	47697544	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:47697544G>A	ENST00000397708.1	-	6	2009	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	MCM3AP_ENST00000291688.1_Silent_p.L585L			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	585					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CACATGGCCCGAGGCCCTCGG	0.552																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(1753-1755)ctC>ctT		minichromosome maintenance complex component 3 associated protein							133.0	116.0	122.0					21																	47697544		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47697544G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1755C>T	21.37:g.47697544G>A						MCM3AP_ENST00000291688.1_Silent_p.L585L	p.L585L			O60318	MCM3A_HUMAN			6	2009	-	Breast(49;0.112)		585					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.1755C>T	CCDS13734.1																																																																																				0.552	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		12	111	0	0	0	0.002450	0	12	111				
LIN9	286826	broad.mit.edu	37	1	226421074	226421074	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:226421074T>C	ENST00000328205.5	-	13	1989	c.1444A>G	c.(1444-1446)Agg>Ggg	p.R482G	LIN9_ENST00000481685.1_Missense_Mutation_p.R447G|LIN9_ENST00000366801.1_Missense_Mutation_p.R431G	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	466					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCTGTAAGCCTGGAAATTAAG	0.368																																					Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1444-1446)Agg>Ggg		lin-9 homolog (C. elegans)							117.0	120.0	119.0					1																	226421074		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226421074T>C	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1444A>G	1.37:g.226421074T>C	ENSP00000329102:p.Arg482Gly					LIN9_ENST00000366801.1_Missense_Mutation_p.R431G|LIN9_ENST00000481685.1_Missense_Mutation_p.R447G	p.R482G	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	13	1989	-	Breast(184;0.158)		466					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.1444A>G	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469404	0.26423	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	N	0.17474	0.49	0.80722	D	1	B;B;D	0.57899	0.001;0.002;0.981	B;B;D	0.69824	0.001;0.002;0.966	T	0.54105	-0.8343	9	0.11182	T	0.66	.	15.8367	0.78805	0.0:0.0:0.0:1.0	.	447;466;616	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	G	442;482;537;431;447	.	ENSP00000329102:R482G	R	-	1	2	LIN9	224487697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.810000	0.69179	2.142000	0.66516	0.533000	0.62120	AGG		0.368	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		3	146	0	0	0	0.009096	0	3	146				
TAS2R20	259295	broad.mit.edu	37	12	11150362	11150362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:11150362C>T	ENST00000538986.1	-	1	112	c.113G>A	c.(112-114)aGa>aAa	p.R38K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	38					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GATCTTTTGTCTCTTGACCCA	0.378																																						ENST00000538986.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(112-114)aGa>aAa		taste receptor, type 2, member 20							41.0	46.0	44.0					12																	11150362		2203	4300	6503	SO:0001583	missense	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11150362C>T	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.113G>A	12.37:g.11150362C>T	ENSP00000441624:p.Arg38Lys					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.R38K	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN			1	112	-			38					P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	c.113G>A	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	C	1.313	-0.601536	0.03744	.	.	ENSG00000255837	ENST00000538986	T	0.36520	1.25	2.77	0.615	0.17608	.	0.161017	0.38436	N	0.001685	T	0.22322	0.0538	L	0.35414	1.06	0.09310	N	0.999992	B	0.29531	0.247	B	0.33960	0.173	T	0.14254	-1.0479	10	0.19590	T	0.45	.	5.4381	0.16492	0.0:0.6554:0.2082:0.1364	.	38	P59543	T2R20_HUMAN	K	38	ENSP00000441624:R38K	ENSP00000441624:R38K	R	-	2	0	TAS2R20	11041629	0.001000	0.12720	0.058000	0.19502	0.002000	0.02628	-0.322000	0.08007	0.505000	0.28104	-0.218000	0.12543	AGA		0.378	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		23	46	0	0	0	0.002780	0	23	46				
DNAH3	55567	broad.mit.edu	37	16	20981224	20981224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:20981224G>A	ENST00000261383.3	-	52	8347	c.8348C>T	c.(8347-8349)tCg>tTg	p.S2783L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2783	Stalk. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCACCAGCGAGATGTCGGC	0.592																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8347-8349)tCg>tTg		dynein, axonemal, heavy chain 3							138.0	118.0	124.0					16																	20981224		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20981224G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8348C>T	16.37:g.20981224G>A	ENSP00000261383:p.Ser2783Leu					DNAH3_ENST00000415178.1_3'UTR	p.S2783L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	8347	-			2783			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.8348C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678781	0.47886	.	.	ENSG00000158486	ENST00000261383	T	0.74421	-0.84	5.97	5.97	0.96955	Dynein heavy chain, coiled coil stalk (1);	0.399095	0.22606	N	0.057896	T	0.81498	0.4835	M	0.88512	2.96	0.80722	D	1	P	0.48089	0.905	B	0.41571	0.36	D	0.85374	0.1115	10	0.72032	D	0.01	.	20.5014	0.99208	0.0:0.0:1.0:0.0	.	2783	Q8TD57	DYH3_HUMAN	L	2783	ENSP00000261383:S2783L	ENSP00000261383:S2783L	S	-	2	0	DNAH3	20888725	1.000000	0.71417	0.941000	0.38009	0.004000	0.04260	6.533000	0.73829	2.856000	0.98102	0.644000	0.83932	TCG		0.592	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		35	86	0	0	0	0.003271	0	35	86				
SLC12A4	6560	broad.mit.edu	37	16	67979293	67979293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:67979293C>G	ENST00000316341.3	-	22	3151	c.3011G>C	c.(3010-3012)cGg>cCg	p.R1004P	SLC12A4_ENST00000576616.1_Missense_Mutation_p.R1004P|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R956P|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R1006P|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R973P|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R998P|SLC12A4_ENST00000338335.3_3'UTR	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1004					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCAGCTCCCGGAAATTGTC	0.572																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(3016-3018)cGg>cCg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						91.0	87.0	88.0					16																	67979293		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979293C>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.3011G>C	16.37:g.67979293C>G	ENSP00000318557:p.Arg1004Pro					SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R1004P|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R998P|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R956P|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R973P|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R1004P	p.R1006P	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	21	3056	-		Ovarian(137;0.192)	1004					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.3017G>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695853	0.88830	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	L	0.52573	1.65	0.80722	D	1	B;B;D;B;B;B	0.61080	0.011;0.003;0.989;0.002;0.002;0.003	B;B;P;B;B;B	0.60286	0.013;0.006;0.872;0.013;0.013;0.01	T	0.46498	-0.9187	10	0.27082	T	0.32	.	19.2529	0.93932	0.0:1.0:0.0:0.0	.	1006;998;973;998;1004;1004	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	P	1006;973;998;1004	ENSP00000395983:R1006P;ENSP00000438334:R973P;ENSP00000445962:R998P;ENSP00000318557:R1004P	ENSP00000318557:R1004P	R	-	2	0	SLC12A4	66536794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.817000	0.55668	2.557000	0.86248	0.557000	0.71058	CGG		0.572	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		28	58	0	0	0	0.007291	0	28	58				
OR10R2	343406	broad.mit.edu	37	1	158450344	158450344	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:158450344T>C	ENST00000368152.1	+	1	677	c.677T>C	c.(676-678)gTa>gCa	p.V226A	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGAGTTCTTGTACTTGTGGTT	0.413																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(676-678)gTa>gCa		olfactory receptor, family 10, subfamily R, member 2							150.0	136.0	140.0					1																	158450344		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450344T>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.677T>C	1.37:g.158450344T>C	ENSP00000357134:p.Val226Ala					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.V226A	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	677	+	all_hematologic(112;0.0378)		226					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.677T>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	11.01	1.513163	0.27123	.	.	ENSG00000198965	ENST00000368152	T	0.00152	8.66	4.48	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	L	0.35414	1.06	0.09310	N	1	B	0.31581	0.329	B	0.36766	0.232	T	0.00783	-1.1568	9	0.45353	T	0.12	.	6.2663	0.20928	0.0:0.0872:0.1606:0.7522	.	226	Q8NGX6	O10R2_HUMAN	A	226	ENSP00000357134:V226A	ENSP00000357134:V226A	V	+	2	0	OR10R2	156716968	0.000000	0.05858	0.113000	0.21522	0.997000	0.91878	0.139000	0.16036	0.214000	0.20742	0.533000	0.62120	GTA		0.413	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		26	87	0	0	0	0.008361	0	26	87				
DNAH2	146754	broad.mit.edu	37	17	7696466	7696466	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7696466C>T	ENST00000572933.1	+	48	8972	c.7512C>T	c.(7510-7512)ctC>ctT	p.L2504L	DNAH2_ENST00000389173.2_Silent_p.L2504L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2504	AAA 3. {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)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCCGCCTCTGGATTGACT	0.517																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7510-7512)ctC>ctT		dynein, axonemal, heavy chain 2							96.0	87.0	90.0					17																	7696466		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696466C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7512C>T	17.37:g.7696466C>T						DNAH2_ENST00000389173.2_Silent_p.L2504L	p.L2504L			Q9P225	DYH2_HUMAN			48	8972	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2504			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.7512C>T	CCDS32551.1																																																																																				0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		22	84	0	0	0	0.014323	0	22	84				
GBA2	57704	broad.mit.edu	37	9	35750328	35750328	+	5'Flank	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35750328C>A	ENST00000378103.3	-	0	0				GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000378078.4_Missense_Mutation_p.Q69K|GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.Q109K|MSMP_ENST00000414286.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGACTCTAGTCAGCCAGATGT	0.612																																						ENST00000378078.4																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(205-207)Cag>Aag		RGP1 retrograde golgi transport homolog (S. cerevisiae)							37.0	38.0	38.0					9																	35750328		2039	4186	6225	SO:0001631	upstream_gene_variant	9827							g.chr9:35750328C>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35750328C>A	Exception_encountered					RGP1_ENST00000456972.2_Missense_Mutation_p.Q109K	p.Q69K	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	346	+	all_epithelial(49;0.167)		69					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.205C>A	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	6.990	0.552694	0.13374	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.33	5.33	0.75918	.	0.235838	0.43579	D	0.000546	T	0.26011	0.0634	N	0.03115	-0.41	0.41687	D	0.989322	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.19943	-1.0290	9	0.05833	T	0.94	-12.44	13.4625	0.61235	0.1572:0.8428:0.0:0.0	.	69;69	Q92546;A8K0K1	RGP1_HUMAN;.	K	109;69	.	ENSP00000367318:Q69K	Q	+	1	0	RGP1	35740328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.373000	0.59537	2.478000	0.83669	0.655000	0.94253	CAG		0.612	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		9	31	1	0	9.05144e-12	0.001855	1.01146e-11	9	31				
USP8	9101	broad.mit.edu	37	15	50791262	50791262	+	Nonsense_Mutation	SNP	C	C	T	rs142928952		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:50791262C>T	ENST00000396444.3	+	20	3672	c.3334C>T	c.(3334-3336)Cga>Tga	p.R1112*	USP50_ENST00000530218.1_5'Flank|USP8_ENST00000425032.3_Nonsense_Mutation_p.R1006*|USP8_ENST00000433963.1_Nonsense_Mutation_p.R1112*|USP8_ENST00000307179.4_Nonsense_Mutation_p.R1112*|RP11-562A8.5_ENST00000560159.1_lincRNA|RP11-562A8.4_ENST00000560380.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1112					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTGGGACCACGAGTAACTGA	0.368																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(3334-3336)Cga>Tga		ubiquitin specific peptidase 8							59.0	58.0	58.0					15																	50791262		2195	4292	6487	SO:0001587	stop_gained	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50791262C>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.3334C>T	15.37:g.50791262C>T	ENSP00000379721:p.Arg1112*					USP8_ENST00000396444.3_Nonsense_Mutation_p.R1112*|USP8_ENST00000425032.3_Nonsense_Mutation_p.R1006*|USP8_ENST00000307179.4_Nonsense_Mutation_p.R1112*	p.R1112*	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	21	3834	+			1112					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Nonsense_Mutation	SNP	ENST00000396444.3	37	c.3334C>T	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	43	10.294480	0.99377	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	.	.	.	5.44	4.5	0.54988	.	0.099633	0.43260	D	0.000595	.	.	.	.	.	.	0.44042	D	0.996773	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3812	14.7671	0.69648	0.2618:0.7382:0.0:0.0	.	.	.	.	X	1112;1112;1112;1006;330;325	.	ENSP00000302239:R1112X	R	+	1	2	USP8	48578554	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	1.626000	0.37039	1.367000	0.46095	0.585000	0.79938	CGA		0.368	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		12	33	0	0	0	0.010729	0	12	33				
SIPA1L1	26037	broad.mit.edu	37	14	72055505	72055505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:72055505G>C	ENST00000555818.1	+	2	1264	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E306Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E306Q	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	306					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAAAGGTGAAGAACTTGGGAA	0.433																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(916-918)Gaa>Caa		signal-induced proliferation-associated 1 like 1							67.0	71.0	69.0					14																	72055505		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055505G>C	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.916G>C	14.37:g.72055505G>C	ENSP00000450832:p.Glu306Gln					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E306Q|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E306Q	p.E306Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1264	+			306					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.916G>C	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517645	0.44763	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.43294	0.95;0.95;0.95	6.07	6.07	0.98685	.	0.195423	0.56097	D	0.000038	T	0.56247	0.1972	L	0.42245	1.32	0.80722	D	1	P;D;D	0.55172	0.946;0.97;0.963	B;D;B	0.63703	0.418;0.917;0.444	T	0.32561	-0.9902	10	0.19147	T	0.46	-20.8382	20.6593	0.99626	0.0:0.0:1.0:0.0	.	306;306;306	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	Q	306	ENSP00000370630:E306Q;ENSP00000450832:E306Q;ENSP00000351352:E306Q	ENSP00000351352:E306Q	E	+	1	0	SIPA1L1	71125258	1.000000	0.71417	0.991000	0.47740	0.193000	0.23685	7.733000	0.84916	2.885000	0.99019	0.655000	0.94253	GAA		0.433	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		13	47	0	0	0	0.013537	0	13	47				
AGTPBP1	23287	broad.mit.edu	37	9	88307677	88307677	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:88307677G>C	ENST00000357081.3	-	3	228	c.84C>G	c.(82-84)atC>atG	p.I28M	AGTPBP1_ENST00000376081.4_Missense_Mutation_p.I28M|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.I28M|AGTPBP1_ENST00000337006.4_De_novo_Start_InFrame|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_De_novo_Start_InFrame|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.I80M			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	28					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCTCAGCATTGATCTTCTCCA	0.388																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(82-84)atC>atG		ATP/GTP binding protein 1							126.0	110.0	115.0					9																	88307677		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88307677G>C	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.84C>G	9.37:g.88307677G>C	ENSP00000349592:p.Ile28Met					AGTPBP1_ENST00000376081.4_Missense_Mutation_p.I28M|AGTPBP1_ENST00000337006.4_De_novo_Start_InFrame|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.I80M|AGTPBP1_ENST00000376080.1_De_novo_Start_InFrame|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.I28M	p.I28M			Q9UPW5	CBPC1_HUMAN			3	228	-			28					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.84C>G		.	.	.	.	.	.	.	.	.	.	G	11.47	1.648524	0.29336	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.65	2.72	0.32119	Armadillo-type fold (1);	0.222985	0.45606	D	0.000347	T	0.34629	0.0904	L	0.54323	1.7	0.80722	D	1	B;B;B	0.24823	0.112;0.085;0.112	B;B;B	0.20384	0.029;0.018;0.029	T	0.25433	-1.0132	10	0.72032	D	0.01	-3.8588	7.3558	0.26719	0.0922:0.0:0.7239:0.1839	.	80;28;28	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	M	28;28;80;28	ENSP00000349592:I28M;ENSP00000365251:I28M;ENSP00000365277:I80M;ENSP00000365249:I28M	ENSP00000349592:I28M	I	-	3	3	AGTPBP1	87497497	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	1.330000	0.33781	0.872000	0.35775	0.561000	0.74099	ATC		0.388	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		6	25	0	0	0	0.001168	0	6	25				
NCAPD3	23310	broad.mit.edu	37	11	134072795	134072795	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:134072795A>G	ENST00000534548.2	-	13	1595	c.1531T>C	c.(1531-1533)Tcc>Ccc	p.S511P		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	511					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTTGGTAGGAAAAAGCTTTA	0.348																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1531-1533)Tcc>Ccc		non-SMC condensin II complex, subunit D3							102.0	98.0	99.0					11																	134072795		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134072795A>G	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1531T>C	11.37:g.134072795A>G	ENSP00000433681:p.Ser511Pro						p.S511P	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	13	1595	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	511					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.1531T>C	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	A	9.775	1.173722	0.21704	.	.	ENSG00000151503	ENST00000534548	T	0.62941	-0.01	4.78	2.4	0.29515	Armadillo-type fold (1);	0.816905	0.11540	N	0.553859	T	0.46698	0.1406	L	0.33485	1.01	0.38862	D	0.956512	B	0.06786	0.001	B	0.06405	0.002	T	0.37291	-0.9712	10	0.46703	T	0.11	0.5553	4.2398	0.10642	0.7258:0.0:0.0977:0.1765	.	511	P42695	CNDD3_HUMAN	P	511	ENSP00000433681:S511P	ENSP00000431612:S511P	S	-	1	0	NCAPD3	133578005	1.000000	0.71417	0.087000	0.20705	0.009000	0.06853	1.256000	0.32921	0.263000	0.21812	0.528000	0.53228	TCC		0.348	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		16	16	0	0	0	0.004007	0	16	16				
SLC31A1	1317	broad.mit.edu	37	9	116028637	116028637	+	IGR	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:116028637A>G	ENST00000374212.4	+	0	4744				CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Missense_Mutation_p.E177G	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1						cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATGATTCAAGAGGCTCTTATG	0.473																																					Ovarian(135;1049 1799 4519 17564 28677)	ENST00000374210.6																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(529-531)gAg>gGg		solute carrier family 31 (copper transporter), member 1							17.0	15.0	16.0					9																	116028637		876	1991	2867	SO:0001628	intergenic_variant	1317					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:116028637A>G	U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"""Solute carriers"""	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519		9.37:g.116028637A>G						CDC26_ENST00000490408.1_Intron	p.E177G			O15431	COPT1_HUMAN			6	716	+			60					A8K8Z6|Q53GR5|Q5T1M4	Missense_Mutation	SNP	ENST00000374212.4	37	c.530A>G	CCDS6789.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443893	0.25987	.	.	ENSG00000136868	ENST00000374210	T	0.76709	-1.04	2.72	1.57	0.23409	.	.	.	.	.	T	0.66218	0.2767	.	.	.	0.09310	N	1	B	0.19073	0.033	B	0.25140	0.058	T	0.58951	-0.7545	8	0.87932	D	0	.	4.4206	0.11479	0.84:0.0:0.16:0.0	.	177	Q5T1M3	.	G	177	ENSP00000363327:E177G	ENSP00000363327:E177G	E	+	2	0	SLC31A1	115068458	0.001000	0.12720	0.005000	0.12908	0.011000	0.07611	0.653000	0.24902	0.451000	0.26802	0.533000	0.62120	GAG		0.473	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859		4	5	0	0	0	0.009096	0	4	5				
ABCC8	6833	broad.mit.edu	37	11	17418492	17418492	+	Missense_Mutation	SNP	C	C	G	rs138642224	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:17418492C>G	ENST00000389817.3	-	33	4158	c.4090G>C	c.(4090-4092)Gtc>Ctc	p.V1364L	ABCC8_ENST00000302539.4_Missense_Mutation_p.V1365L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1364	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGGGCATTGACGTGCTTCAGC	0.612																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4093-4095)Gtc>Ctc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						121.0	93.0	102.0					11																	17418492		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17418492C>G	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4090G>C	11.37:g.17418492C>G	ENSP00000374467:p.Val1364Leu					ABCC8_ENST00000389817.3_Missense_Mutation_p.V1364L	p.V1365L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	33	4218	-			1364			ABC transporter 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.4093G>C	CCDS31437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.99|12.99	2.104279|2.104279	0.37145|0.37145	.|.	.|.	ENSG00000006071|ENSG00000006071	ENST00000528374|ENST00000389817;ENST00000302539	.|D;D	.|0.94330	.|-3.4;-3.4	4.83|4.83	4.83|4.83	0.62350|0.62350	.|ABC transporter-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85057|0.85057	0.5610|0.5610	N|N	0.04387|0.04387	-0.21|-0.21	0.80722|0.80722	D|D	1|1	.|B	.|0.22080	.|0.064	.|B	.|0.26969	.|0.075	T|T	0.80679|0.80679	-0.1275|-0.1275	5|10	.|0.13470	.|T	.|0.59	.|.	18.2867|18.2867	0.90117|0.90117	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1364	.|Q09428	.|ABCC8_HUMAN	P|L	191|1364;1365	.|ENSP00000374467:V1364L;ENSP00000303960:V1365L	.|ENSP00000303960:V1365L	R|V	-|-	2|1	0|0	ABCC8|ABCC8	17375068|17375068	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.022000|0.022000	0.10575|0.10575	4.794000|4.794000	0.62482|0.62482	2.386000|2.386000	0.81285|0.81285	0.555000|0.555000	0.69702|0.69702	CGT|GTC		0.612	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		11	46	0	0	0	0.010729	0	11	46				
ADAMTS7	11173	broad.mit.edu	37	15	79067056	79067056	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:79067056G>A	ENST00000388820.4	-	12	1996	c.1786C>T	c.(1786-1788)Cgc>Tgc	p.R596C	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	596	Cys-rich.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AAGGAGGGGCGGCCAGCAGGG	0.632																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(1786-1788)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 7							47.0	54.0	51.0					15																	79067056		2196	4291	6487	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79067056G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1786C>T	15.37:g.79067056G>A	ENSP00000373472:p.Arg596Cys					ADAMTS7_ENST00000566303.1_Intron	p.R596C	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			12	1996	-			596			Cys-rich.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.1786C>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783918	0.31593	.	.	ENSG00000136378	ENST00000388820	T	0.00441	7.41	3.51	2.55	0.30701	.	1.548120	0.03595	N	0.232532	T	0.00637	0.0021	M	0.70275	2.135	0.09310	N	1	D;D	0.69078	0.96;0.997	P;P	0.46452	0.513;0.517	T	0.55250	-0.8170	10	0.54805	T	0.06	.	9.2505	0.37551	0.0:0.0:0.4741:0.5258	.	596;596	A8MQ00;Q9UKP4	.;ATS7_HUMAN	C	596	ENSP00000373472:R596C	ENSP00000373472:R596C	R	-	1	0	ADAMTS7	76854111	0.950000	0.32346	0.012000	0.15200	0.724000	0.41520	1.818000	0.39012	0.785000	0.33685	0.289000	0.19496	CGC		0.632	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		10	39	0	0	0	0.006214	0	10	39				
RADIL	55698	broad.mit.edu	37	7	4856042	4856042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:4856042G>A	ENST00000399583.3	-	8	1970	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	RADIL_ENST00000536091.1_Missense_Mutation_p.A541V|RADIL_ENST00000538469.1_Missense_Mutation_p.R355C	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	595	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCTCACGGCGCTCCGTCTGG	0.677																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1783-1785)Cgc>Tgc		Ras association and DIL domains							11.0	17.0	15.0					7																	4856042		1960	4116	6076	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4856042G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1783C>T	7.37:g.4856042G>A	ENSP00000382492:p.Arg595Cys					RADIL_ENST00000538469.1_Missense_Mutation_p.R355C|RADIL_ENST00000536091.1_Missense_Mutation_p.A541V	p.R595C	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	8	1970	-		Ovarian(82;0.0175)	595			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.1783C>T	CCDS43544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.727|8.727	0.915709|0.915709	0.17907|0.17907	.|.	.|.	ENSG00000157927|ENSG00000157927	ENST00000536091|ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T|T;T	0.24538|0.07444	1.85|3.29;3.19	5.39|5.39	1.22|1.22	0.21188|0.21188	.|Dilute (1);	.|0.407880	.|0.27682	.|N	.|0.018297	T|T	0.03959|0.03959	0.0111|0.0111	N|N	0.16478|0.16478	0.41|0.41	0.22017|0.22017	N|N	0.999418|0.999418	.|B	.|0.17667	.|0.023	.|B	.|0.06405	.|0.002	T|T	0.34551|0.34551	-0.9824|-0.9824	7|10	0.87932|0.54805	D|T	0|0.06	-10.039|-10.039	1.1673|1.1673	0.01818|0.01818	0.1736:0.2301:0.3703:0.226|0.1736:0.2301:0.3703:0.226	.|.	.|595	.|Q96JH8	.|RADIL_HUMAN	V|C	541|595;566;329;355	ENSP00000442533:A541V|ENSP00000382492:R595C;ENSP00000442966:R355C	ENSP00000442533:A541V|ENSP00000320946:R566C	A|R	-|-	2|1	0|0	RADIL|RADIL	4822568|4822568	0.000000|0.000000	0.05858|0.05858	0.985000|0.985000	0.45067|0.45067	0.057000|0.057000	0.15508|0.15508	-0.641000|-0.641000	0.05434|0.05434	0.652000|0.652000	0.30806|0.30806	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.677	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		4	15	0	0	0	0.009096	0	4	15				
OSBPL2	9885	broad.mit.edu	37	20	60835072	60835072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:60835072G>A	ENST00000313733.3	+	3	275	c.73G>A	c.(73-75)Gag>Aag	p.E25K	OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	25					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGAATTTTCAGAGGCAAATCA	0.423																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(73-75)Gag>Aag		oxysterol binding protein-like 2							93.0	98.0	96.0					20																	60835072		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60835072G>A	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.73G>A	20.37:g.60835072G>A	ENSP00000316649:p.Glu25Lys					OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Intron	p.E25K	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		3	275	+	Breast(26;7.76e-09)		25					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.73G>A	CCDS13495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.725974|2.725974	0.48833|0.48833	.|.	.|.	ENSG00000130703|ENSG00000130703	ENST00000358053|ENST00000313733	.|T	.|0.44482	.|0.92	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.300125	.|0.27640	.|N	.|0.018468	.|T	.|0.42017	.|0.1184	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|P	.|0.36789	.|0.57	.|B	.|0.38264	.|0.269	.|T	.|0.27905	.|-1.0060	.|10	.|0.27082	.|T	.|0.32	.|-36.3345	15.2067|15.2067	0.73183|0.73183	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|25	.|Q9H1P3	.|OSBL2_HUMAN	.|K	-1|25	.|ENSP00000316649:E25K	.|ENSP00000316649:E25K	.|E	+|+	.|1	.|0	OSBPL2|OSBPL2	60268467|60268467	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.578000|0.578000	0.36192|0.36192	5.885000|5.885000	0.69736|0.69736	2.374000|2.374000	0.81015|0.81015	0.655000|0.655000	0.94253|0.94253	.|GAG		0.423	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		23	55	0	0	0	0.004656	0	23	55				
UNC5D	137970	broad.mit.edu	37	8	35583721	35583721	+	Missense_Mutation	SNP	G	G	A	rs190579280	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:35583721G>A	ENST00000404895.2	+	10	1683	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q	UNC5D_ENST00000453357.2_Missense_Mutation_p.R447Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R28Q|UNC5D_ENST00000287272.2_Missense_Mutation_p.R383Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R457Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R385Q	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	452					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGTGAGCCGGACATACAGC	0.488													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19446	0.0		0.0	False		,,,				2504	0.0					ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1147-1149)cGg>cAg		unc-5 homolog D (C. elegans)		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	65.0	65.0	65.0		1355	6.0	1.0	8		65	0,8600		0,0,4300	yes	missense	UNC5D	NM_080872.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	452/954	35583721	1,13005	2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583721G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1355G>A	8.37:g.35583721G>A	ENSP00000385143:p.Arg452Gln					UNC5D_ENST00000404895.2_Missense_Mutation_p.R452Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R457Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.R447Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R385Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R28Q	p.R383Q			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1168	+			452					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1148G>A	CCDS6093.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.2	3.952407	0.73787	2.27E-4	0.0	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.53857	0.63;1.08;1.09;0.63;0.6;2.49	6.04	6.04	0.98038	.	0.111373	0.64402	D	0.000010	T	0.39036	0.1063	L	0.29908	0.895	0.40738	D	0.982802	P;P;P;P	0.48503	0.911;0.522;0.597;0.462	B;B;B;B	0.28991	0.097;0.056;0.089;0.041	T	0.43956	-0.9359	10	0.46703	T	0.11	-14.7138	20.5948	0.99439	0.0:0.0:1.0:0.0	.	28;457;447;452	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	Q	452;385;383;457;447;28	ENSP00000385143:R452Q;ENSP00000392739:R385Q;ENSP00000287272:R383Q;ENSP00000412652:R457Q;ENSP00000394303:R447Q;ENSP00000397211:R28Q	ENSP00000287272:R383Q	R	+	2	0	UNC5D	35703263	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	7.611000	0.82962	2.873000	0.98535	0.563000	0.77884	CGG		0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			59	62	0	0	0	0.014410	0	59	62				
TMEM99	147184	broad.mit.edu	37	17	38991082	38991082	+	Missense_Mutation	SNP	C	C	T	rs201820044		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:38991082C>T	ENST00000301665.3	+	3	618	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	105						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTGTTGGCTCGTGGTTGCTC	0.468																																						ENST00000301665.3																			0				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10						c.(313-315)tCg>tTg		transmembrane protein 99		G	LEU/SER,LEU/SER,LEU/SER	0,3862		0,0,1931	158.0	156.0	157.0		314,314,314	-0.5	0.0	17		157	1,8287		0,1,4143	yes	missense,missense,missense	TMEM99	NM_001195386.1,NM_001195387.1,NM_145274.3	145,145,145	0,1,6074	TT,TC,CC		0.0121,0.0,0.0082	benign,benign,benign	105/259,105/259,105/259	38991082	1,12149	1931	4144	6075	SO:0001583	missense	147184					integral to membrane		g.chr17:38991082C>T	AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.314C>T	17.37:g.38991082C>T	ENSP00000301665:p.Ser105Leu						p.S105L	NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN			3	618	+		Breast(137;0.000301)	105					B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	c.314C>T	CCDS42319.1	.	.	.	.	.	.	.	.	.	.	G	8.020	0.759521	0.15846	0.0	1.21E-4	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.29142	1.58;1.58	0.235	-0.47	0.12131	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25745	-1.0123	8	0.87932	D	0	.	.	.	.	.	105	Q8N816	TMM99_HUMAN	L	105	ENSP00000390036:S105L;ENSP00000301665:S105L	ENSP00000301665:S105L	S	+	2	0	TMEM99	36244608	0.005000	0.15991	0.003000	0.11579	0.003000	0.03518	-1.587000	0.02108	-1.775000	0.01287	-1.751000	0.00678	TCG		0.468	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274		62	129	0	0	0	0.014410	0	62	129				
SLC2A3	6515	broad.mit.edu	37	12	8082459	8082459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:8082459G>A	ENST00000075120.7	-	6	922	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	228					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCCCACAACCGCTGGAGGACT	0.498																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(682-684)Cgg>Tgg		solute carrier family 2 (facilitated glucose transporter), member 3							89.0	89.0	89.0					12																	8082459		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8082459G>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.682C>T	12.37:g.8082459G>A	ENSP00000075120:p.Arg228Trp						p.R228W	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	6	922	-			228					B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.682C>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	9.142	1.014143	0.19277	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.76448	-1.02	4.34	-1.51	0.08664	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.432149	0.23492	N	0.047591	T	0.64349	0.2590	L	0.40543	1.245	0.42564	D	0.993155	B	0.23128	0.08	B	0.27170	0.077	T	0.49908	-0.8889	10	0.35671	T	0.21	.	7.7012	0.28623	0.0892:0.0:0.2567:0.6542	.	228	P11169	GTR3_HUMAN	W	228;154	ENSP00000075120:R228W	ENSP00000075120:R228W	R	-	1	2	SLC2A3	7973726	0.042000	0.20092	0.015000	0.15790	0.885000	0.51271	1.144000	0.31565	-0.070000	0.12908	0.407000	0.27541	CGG		0.498	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		12	89	0	0	0	0.006122	0	12	89				
UNC13C	440279	broad.mit.edu	37	15	54916087	54916087	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:54916087G>T	ENST00000260323.11	+	31	6294	c.6294G>T	c.(6292-6294)aaG>aaT	p.K2098N	UNC13C_ENST00000539562.2_Missense_Mutation_p.K19N|UNC13C_ENST00000545554.1_Missense_Mutation_p.K2098N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K2096N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2098	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGACAAGAAGAGAAAACAAG	0.403																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(6292-6294)aaG>aaT		unc-13 homolog C (C. elegans)							120.0	115.0	116.0					15																	54916087		1868	4097	5965	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54916087G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6294G>T	15.37:g.54916087G>T	ENSP00000260323:p.Lys2098Asn					UNC13C_ENST00000537900.1_Missense_Mutation_p.K2096N|UNC13C_ENST00000539562.2_Missense_Mutation_p.K19N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K2098N	p.K2098N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	31	6294	+			2098			C2 2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.6294G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.630019	0.46944	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900;ENST00000539562	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-0.53	5.72	3.52	0.40303	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.097896	0.64402	D	0.000002	D	0.86100	0.5852	H	0.95043	3.615	0.47547	D	0.999455	P	0.45672	0.864	P	0.51079	0.658	D	0.86340	0.1704	10	0.49607	T	0.09	.	7.0773	0.25211	0.3208:0.0:0.6792:0.0	.	2098	Q8NB66	UN13C_HUMAN	N	2098;2098;2096;19	ENSP00000260323:K2098N;ENSP00000438156:K2098N;ENSP00000442569:K2096N;ENSP00000443886:K19N	ENSP00000260323:K2098N	K	+	3	2	UNC13C	52703379	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.427000	0.34881	1.418000	0.47098	0.563000	0.77884	AAG		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		19	45	1	0	8.28177e-16	0.007413	9.37358e-16	19	45				
CNTN2	6900	broad.mit.edu	37	1	205039107	205039107	+	Silent	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:205039107C>A	ENST00000331830.4	+	18	2633	c.2349C>A	c.(2347-2349)ccC>ccA	p.P783P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	783	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCTACACGCCCTTTGAGGTCA	0.667																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2347-2349)ccC>ccA		contactin 2 (axonal)							47.0	53.0	51.0					1																	205039107		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205039107C>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2349C>A	1.37:g.205039107C>A							p.P783P	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2633	+	all_cancers(21;0.144)|Breast(84;0.0437)		783			Fibronectin type-III 2.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2349C>A	CCDS1449.1																																																																																				0.667	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		21	82	1	0	1.50039e-11	0.012319	1.67132e-11	21	82				
KCTD13	253980	broad.mit.edu	37	16	29918300	29918300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:29918300C>T	ENST00000568000.1	-	6	1884	c.883G>A	c.(883-885)Ggg>Agg	p.G295R		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	295					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						TCATCCTCCCCGCGGCCAGCC	0.637																																						ENST00000568000.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(883-885)Ggg>Agg		potassium channel tetramerization domain containing 13							81.0	79.0	79.0					16																	29918300		2197	4300	6497	SO:0001583	missense	253980				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr16:29918300C>T	AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.883G>A	16.37:g.29918300C>T	ENSP00000455785:p.Gly295Arg						p.G295R	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN			6	1884	-			295					A8K0R5|Q96P93|Q96SA1	Missense_Mutation	SNP	ENST00000568000.1	37	c.883G>A	CCDS10661.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947328	0.53186	.	.	ENSG00000174943	ENST00000308768	T	0.50548	0.74	4.46	4.46	0.54185	.	0.152498	0.31335	N	0.007833	T	0.36717	0.0977	N	0.14661	0.345	0.80722	D	1	D	0.67145	0.996	P	0.49597	0.616	T	0.21861	-1.0233	10	0.52906	T	0.07	-1.1233	9.7777	0.40630	0.0:0.9035:0.0:0.0965	.	295	Q8WZ19	BACD1_HUMAN	R	295	ENSP00000311202:G295R	ENSP00000311202:G295R	G	-	1	0	KCTD13	29825801	0.000000	0.05858	1.000000	0.80357	0.436000	0.31835	0.446000	0.21694	2.310000	0.77875	0.460000	0.39030	GGG		0.637	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2	NM_178863		33	80	0	0	0	0.003271	0	33	80				
BPIFB2	80341	broad.mit.edu	37	20	31606867	31606867	+	Splice_Site	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:31606867G>A	ENST00000170150.3	+	10	1050		c.e10-1			NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2							extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GCTGATTTCAGAGGTCGGATG	0.572																																						ENST00000170150.3																			0											c.e10-1		BPI fold containing family B, member 2							142.0	141.0	141.0					20																	31606867		2203	4300	6503	SO:0001630	splice_region_variant	80341					extracellular region	lipid binding	g.chr20:31606867G>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.856-1G>A	20.37:g.31606867G>A								NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			10	1050	+								Q6UWN3|Q6ZME0|Q8NFQ7	Splice_Site	SNP	ENST00000170150.3	37		CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305000	0.60305	.	.	ENSG00000078898	ENST00000170150	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7414	0.57255	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFB2	31070528	0.999000	0.42202	0.970000	0.41538	0.885000	0.51271	4.336000	0.59304	2.443000	0.82685	0.555000	0.69702	.		0.572	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227	Intron	44	83	0	0	0	0.011902	0	44	83				
F13B	2165	broad.mit.edu	37	1	197024886	197024886	+	Missense_Mutation	SNP	C	C	T	rs192220037		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:197024886C>T	ENST00000367412.1	-	8	1356	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	438	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.R438H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTGTTCGCAACGAGATATTTT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		16038	0.001		0.0	False		,,,				2504	0.0					ENST00000367412.1																			1	Substitution - Missense(1)	p.R438H(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1312-1314)cGt>cAt		coagulation factor XIII, B polypeptide							137.0	132.0	134.0					1																	197024886		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197024886C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1313G>A	1.37:g.197024886C>T	ENSP00000356382:p.Arg438His						p.R438H	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			8	1356	-			438			Sushi 7.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1313G>A	CCDS1388.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.468	-0.560719	0.03939	.	.	ENSG00000143278	ENST00000367412	T	0.64438	-0.1	5.84	-2.74	0.05932	Complement control module (2);Sushi/SCR/CCP (3);	0.812933	0.10027	N	0.725233	T	0.30916	0.0780	N	0.05574	-0.02	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18524	-1.0334	10	0.13108	T	0.6	.	3.4685	0.07558	0.3708:0.2214:0.0:0.4078	.	438	P05160	F13B_HUMAN	H	438	ENSP00000356382:R438H	ENSP00000356382:R438H	R	-	2	0	F13B	195291509	0.003000	0.15002	0.015000	0.15790	0.032000	0.12392	-0.152000	0.10159	-0.376000	0.07943	-0.469000	0.05056	CGT		0.413	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		11	53	0	0	0	0.003163	0	11	53				
DYNC1LI2	1783	broad.mit.edu	37	16	66766353	66766353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:66766353G>C	ENST00000258198.2	-	7	1024	c.818C>G	c.(817-819)tCa>tGa	p.S273*	DYNC1LI2_ENST00000440564.2_Nonsense_Mutation_p.S234*|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000570201.1_5'Flank|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Nonsense_Mutation_p.S196*	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	273					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTCTTTCACTGATGTGTAAAT	0.378																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(817-819)tCa>tGa		dynein, cytoplasmic 1, light intermediate chain 2							95.0	90.0	92.0					16																	66766353		2200	4300	6500	SO:0001587	stop_gained	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66766353G>C	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.818C>G	16.37:g.66766353G>C	ENSP00000258198:p.Ser273*					DYNC1LI2_ENST00000443351.2_Nonsense_Mutation_p.S196*|DYNC1LI2_ENST00000440564.2_Nonsense_Mutation_p.S234*|DYNC1LI2_ENST00000379482.2_Intron	p.S273*	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	7	1024	-		Ovarian(137;0.0563)	273					A8K6V1|B4DZP4|Q8TAT3	Nonsense_Mutation	SNP	ENST00000258198.2	37	c.818C>G	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	G	38	7.015740	0.98002	.	.	ENSG00000135720	ENST00000258198;ENST00000443351;ENST00000440564	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.9987	19.1741	0.93597	0.0:0.0:1.0:0.0	.	.	.	.	X	273;196;234	.	ENSP00000258198:S273X	S	-	2	0	DYNC1LI2	65323854	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.559000	0.98135	2.759000	0.94783	0.563000	0.77884	TCA		0.378	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		11	17	0	0	0	0.010729	0	11	17				
OBSCN	84033	broad.mit.edu	37	1	228459794	228459794	+	Intron	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:228459794C>T	ENST00000422127.1	+	18	5181				OBSCN_ENST00000570156.2_Missense_Mutation_p.S1953L|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.S425L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGCTCGAAAATGCGT	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5857-5859)tCg>tTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							77.0	74.0	75.0					1																	228459794		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228459794C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5138-1677C>T	1.37:g.228459794C>T						OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.S425L	p.S1953L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			20	5932	+		Prostate(94;0.0405)	934			Ig-like 19.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.5858C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060908	0.36373	.	.	ENSG00000154358	ENST00000359599	T	0.05319	3.46	4.95	2.86	0.33363	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.44966	D	0.997988	.	.	.	.	.	.	T	0.20405	-1.0276	6	0.28530	T	0.3	.	11.3245	0.49440	0.6284:0.3716:0.0:0.0	.	.	.	.	L	425	ENSP00000352613:S425L	ENSP00000352613:S425L	S	+	2	0	OBSCN	226526417	0.000000	0.05858	0.649000	0.29536	0.013000	0.08279	0.282000	0.18829	1.078000	0.41014	0.511000	0.50034	TCG		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		13	72	0	0	0	0.001855	0	13	72				
DCAF17	80067	broad.mit.edu	37	2	172314572	172314572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:172314572C>A	ENST00000375255.3	+	7	1046	c.719C>A	c.(718-720)aCc>aAc	p.T240N	DCAF17_ENST00000539783.1_Missense_Mutation_p.T240N|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	240					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AGCTTCCAAACCATCGCTGAA	0.388																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.(718-720)aCc>aAc		DDB1 and CUL4 associated factor 17							195.0	185.0	188.0					2																	172314572		1913	4123	6036	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314572C>A	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.719C>A	2.37:g.172314572C>A	ENSP00000364404:p.Thr240Asn					DCAF17_ENST00000539783.1_Missense_Mutation_p.T240N|DCAF17_ENST00000468592.1_3'UTR	p.T240N	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			7	1046	+			240					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.719C>A	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251907	0.22880	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.43688	0.94;0.94	5.91	4.91	0.64330	.	0.446038	0.24189	N	0.040740	T	0.25754	0.0627	N	0.22421	0.69	0.25466	N	0.987875	B;B	0.18610	0.029;0.009	B;B	0.18561	0.017;0.022	T	0.16689	-1.0394	10	0.21014	T	0.42	-0.4176	7.1131	0.25401	0.1589:0.7344:0.0:0.1066	.	240;240	F5H7W1;Q5H9S7	.;DCA17_HUMAN	N	240	ENSP00000364404:T240N;ENSP00000442238:T240N	ENSP00000364404:T240N	T	+	2	0	DCAF17	172022818	0.995000	0.38212	1.000000	0.80357	0.874000	0.50279	0.970000	0.29383	1.249000	0.43950	0.650000	0.86243	ACC		0.388	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		81	231	1	0	1.21826e-31	0.014410	1.39683e-31	81	231				
LIPE	3991	broad.mit.edu	37	19	42912238	42912238	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:42912238A>G	ENST00000244289.4	-	4	1822	c.1546T>C	c.(1546-1548)Ttt>Ctt	p.F516L	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	516					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCGATGGCAAAGCGGCCGCTG	0.627																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1546-1548)Ttt>Ctt		lipase, hormone-sensitive							75.0	77.0	77.0					19																	42912238		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912238A>G	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1546T>C	19.37:g.42912238A>G	ENSP00000244289:p.Phe516Leu					LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_5'UTR	p.F516L	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			4	1822	-		Prostate(69;0.00682)	516					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1546T>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699442	0.68501	.	.	ENSG00000079435	ENST00000244289	T	0.34072	1.38	4.3	4.3	0.51218	Hormone-sensitive lipase, N-terminal (1);	0.261873	0.32204	N	0.006427	T	0.45637	0.1352	L	0.27053	0.805	0.43930	D	0.99658	B;D	0.63046	0.279;0.992	B;D	0.76071	0.115;0.987	T	0.48352	-0.9043	10	0.72032	D	0.01	-9.3274	12.725	0.57166	1.0:0.0:0.0:0.0	.	516;516	A8K8W7;Q05469	.;LIPS_HUMAN	L	516	ENSP00000244289:F516L	ENSP00000244289:F516L	F	-	1	0	LIPE	47604078	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.869000	0.69613	1.723000	0.51488	0.459000	0.35465	TTT		0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		14	74	0	0	0	0.004007	0	14	74				
KCNU1	157855	broad.mit.edu	37	8	36671785	36671785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:36671785G>A	ENST00000399881.3	+	8	830	c.793G>A	c.(793-795)Gag>Aag	p.E265K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	265					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATATTTTGAGTCAATTTA	0.418																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(793-795)Gag>Aag		potassium channel, subfamily U, member 1							70.0	66.0	67.0					8																	36671785		1868	4094	5962	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36671785G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.793G>A	8.37:g.36671785G>A	ENSP00000382770:p.Glu265Lys						p.E265K	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	8	830	+			265						Missense_Mutation	SNP	ENST00000399881.3	37	c.793G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680506	0.47886	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	D;D	0.98567	-5.0;-5.0	5.37	4.49	0.54785	Ion transport (1);	0.921823	0.08854	U	0.883941	D	0.96738	0.8935	L	0.38838	1.175	0.80722	D	1	P	0.34955	0.477	B	0.37888	0.26	D	0.92281	0.5833	10	0.66056	D	0.02	-8.5508	14.932	0.70923	0.0:0.1443:0.8557:0.0	.	265	A8MYU2	KCNU1_HUMAN	K	265	ENSP00000429951:E265K;ENSP00000382770:E265K	ENSP00000382770:E265K	E	+	1	0	KCNU1	36790943	1.000000	0.71417	0.710000	0.30468	0.026000	0.11368	5.123000	0.64703	1.238000	0.43771	0.467000	0.42956	GAG		0.418	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		17	18	0	0	0	0.004990	0	17	18				
CANT1	124583	broad.mit.edu	37	17	76991155	76991155	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:76991155C>T	ENST00000302345.2	-	3	1274	c.780G>A	c.(778-780)gaG>gaA	p.E260E	CANT1_ENST00000392446.5_Silent_p.E260E|CANT1_ENST00000591773.1_Silent_p.E260E	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	260					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACACCCAGTTCTCGTGGTCCA	0.652			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(778-780)gaG>gaA		calcium activated nucleotidase 1							71.0	58.0	62.0					17																	76991155		2203	4300	6503	SO:0001819	synonymous_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76991155C>T	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.780G>A	17.37:g.76991155C>T						CANT1_ENST00000591773.1_Silent_p.E260E|CANT1_ENST00000392446.5_Silent_p.E260E	p.E260E	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		3	1274	-			260					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Silent	SNP	ENST00000302345.2	37	c.780G>A	CCDS11760.1																																																																																				0.652	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		6	13	0	0	0	0.001168	0	6	13				
NCDN	23154	broad.mit.edu	37	1	36031042	36031042	+	Silent	SNP	C	C	T	rs543753358		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:36031042C>T	ENST00000373243.2	+	7	2351	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P	NCDN_ENST00000356090.4_Silent_p.P656P|NCDN_ENST00000373253.3_Silent_p.P639P	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	656					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCTGGCCCCCGCTGCCCTGC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		14100	0.001		0.0	False		,,,				2504	0.0					ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1966-1968)ccC>ccT		neurochondrin																																				SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36031042C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1968C>T	1.37:g.36031042C>T						NCDN_ENST00000356090.4_Silent_p.P656P|NCDN_ENST00000373253.3_Silent_p.P639P	p.P656P	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			7	2351	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	656					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1968C>T	CCDS392.1																																																																																				0.682	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		11	20	0	0	0	0.008291	0	11	20				
COLGALT2	23127	broad.mit.edu	37	1	183938459	183938459	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:183938459T>G	ENST00000361927.4	-	5	1147	c.776A>C	c.(775-777)gAc>gCc	p.D259A	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D259A	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	259					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CCAGGTGTAGTCCTGGTGTGG	0.537																																						ENST00000361927.4																			0											c.(775-777)gAc>gCc		collagen beta(1-O)galactosyltransferase 2							133.0	118.0	123.0					1																	183938459		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183938459T>G	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.776A>C	1.37:g.183938459T>G	ENSP00000354960:p.Asp259Ala					COLGALT2_ENST00000546159.1_Missense_Mutation_p.D259A	p.D259A	NM_015101.2	NP_055916.1					5	1147	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.776A>C	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440898	0.83993	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.19532	2.14;2.14	5.45	4.33	0.51752	.	0.093718	0.64402	D	0.000001	T	0.41604	0.1166	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.66351	0.943;0.905	T	0.18272	-1.0342	10	0.35671	T	0.21	-19.6249	10.9148	0.47129	0.0:0.0735:0.0:0.9265	.	259;259	F5H3T5;Q8IYK4	.;GT252_HUMAN	A	259	ENSP00000439112:D259A;ENSP00000354960:D259A	ENSP00000354960:D259A	D	-	2	0	GLT25D2	182205082	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.699000	0.84547	0.919000	0.36945	0.482000	0.46254	GAC		0.537	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		24	71	0	0	0	0.003330	0	24	71				
LIMS2	55679	broad.mit.edu	37	2	128412466	128412466	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:128412466T>C	ENST00000355119.4	-	3	341	c.176A>G	c.(175-177)gAa>gGa	p.E59G	LIMS2_ENST00000545738.2_Missense_Mutation_p.E81G|LIMS2_ENST00000410011.1_Missense_Mutation_p.E54G|LIMS2_ENST00000409455.1_Missense_Mutation_p.E54G|LIMS2_ENST00000324938.5_Missense_Mutation_p.E83G|LIMS2_ENST00000409808.2_Missense_Mutation_p.E54G	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	59	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTTCCGGCCTTCAAACTGCAA	0.582																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(160-162)gAa>gGa		LIM and senescent cell antigen-like domains 2							82.0	68.0	73.0					2																	128412466		2203	4300	6503	SO:0001583	missense	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128412466T>C	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.176A>G	2.37:g.128412466T>C	ENSP00000347240:p.Glu59Gly					LIMS2_ENST00000545738.2_Missense_Mutation_p.E81G|LIMS2_ENST00000324938.5_Missense_Mutation_p.E83G|LIMS2_ENST00000355119.4_Missense_Mutation_p.E59G|LIMS2_ENST00000410011.1_Missense_Mutation_p.E54G|LIMS2_ENST00000409808.2_Missense_Mutation_p.E54G	p.E54G			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	3	796	-	Colorectal(110;0.1)		59			LIM zinc-binding 1.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	c.161A>G	CCDS54395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	28.8|28.8	4.953937|4.953937	0.92660|0.92660	.|.	.|.	ENSG00000072163|ENSG00000144230	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034|ENST00000339805	D;D;D;D;D;D|.	0.89415|.	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Zinc finger, LIM-type (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77384|0.77384	0.4122|0.4122	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	B;D;D|.	0.67145|.	0.317;0.99;0.996|.	B;P;D|.	0.75484|.	0.267;0.87;0.986|.	T|T	0.81348|0.81348	-0.0973|-0.0973	10|6	0.87932|0.87932	D|D	0|0	.|.	15.2502|15.2502	0.73539|0.73539	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	81;59;83|.	F5H6E6;Q7Z4I7;Q7Z4I7-2|.	.;LIMS2_HUMAN;.|.	G|S	81;59;83;54;54;54;54;81;54|75	ENSP00000443794:E81G;ENSP00000347240:E59G;ENSP00000326888:E83G;ENSP00000386383:E54G;ENSP00000386637:E54G;ENSP00000387002:E54G|.	ENSP00000326888:E83G|ENSP00000345388:F75S	E|F	-|+	2|2	0|0	LIMS2|GPR17	128128936|128128936	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	7.883000|7.883000	0.87264|0.87264	2.082000|2.082000	0.62665|0.62665	0.459000|0.459000	0.35465|0.35465	GAA|TTC		0.582	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		3	23	0	0	0	0.004672	0	3	23				
FOLH1	2346	broad.mit.edu	37	11	49229949	49229949	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:49229949G>A	ENST00000256999.2	-	1	273	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000533034.1_5'Flank|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.L5F	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	5					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GTTTCGTGAAGGAGATTCCAC	0.701																																						ENST00000256999.2																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(13-15)Ctt>Ttt		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						9.0	12.0	11.0					11																	49229949		2183	4260	6443	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49229949G>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.13C>T	11.37:g.49229949G>A	ENSP00000256999:p.Leu5Phe					FOLH1_ENST00000356696.3_Missense_Mutation_p.L5F|FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000343844.4_5'UTR	p.L5F	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN			1	273	-			5					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.13C>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125207	0.56721	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000389724	T;T	0.39592	1.07;1.1	4.19	2.27	0.28462	.	1.397640	0.05374	U	0.536016	T	0.35393	0.0930	N	0.08118	0	0.18873	N	0.999987	P;D	0.57257	0.946;0.979	P;P	0.55222	0.649;0.771	T	0.26710	-1.0095	10	0.46703	T	0.11	.	5.0821	0.14663	0.1078:0.0:0.6867:0.2055	.	5;5	Q04609-8;Q04609	.;FOLH1_HUMAN	F	5	ENSP00000256999:L5F;ENSP00000349129:L5F	ENSP00000256999:L5F	L	-	1	0	FOLH1	49186525	0.032000	0.19561	0.001000	0.08648	0.001000	0.01503	1.761000	0.38440	0.518000	0.28383	-0.218000	0.12543	CTT		0.701	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		3	9	0	0	0	0.004672	0	3	9				
IRX1	79192	broad.mit.edu	37	5	3600291	3600291	+	Missense_Mutation	SNP	C	C	G	rs372921884		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:3600291C>G	ENST00000302006.3	+	2	1281	c.1229C>G	c.(1228-1230)cCa>cGa	p.P410R	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	410	Poly-Pro.				proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTGCACCTCCACCACCGCAG	0.701																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1228-1230)cCa>cGa		iroquois homeobox 1							25.0	29.0	28.0					5																	3600291		2203	4299	6502	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600291C>G	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1229C>G	5.37:g.3600291C>G	ENSP00000305244:p.Pro410Arg					CTD-2012M11.3_ENST00000559410.1_RNA	p.P410R	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	1281	+			410			Poly-Pro.		Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1229C>G	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	4.722	0.134316	0.09032	.	.	ENSG00000170549	ENST00000302006	T	0.56103	0.48	4.03	3.04	0.35103	.	0.736785	0.12831	U	0.435612	T	0.29914	0.0748	N	0.08118	0	0.30407	N	0.779459	B	0.30068	0.267	B	0.30495	0.116	T	0.22452	-1.0216	10	0.22706	T	0.39	.	9.0072	0.36120	0.545:0.455:0.0:0.0	.	410	P78414	IRX1_HUMAN	R	410	ENSP00000305244:P410R	ENSP00000305244:P410R	P	+	2	0	IRX1	3653291	0.041000	0.20044	0.018000	0.16275	0.232000	0.25224	2.463000	0.45058	1.762000	0.52044	0.313000	0.20887	CCA		0.701	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		15	69	0	0	0	0.003163	0	15	69				
KIF26B	55083	broad.mit.edu	37	1	245772637	245772637	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:245772637C>G	ENST00000407071.2	+	8	2161	c.1721C>G	c.(1720-1722)tCt>tGt	p.S574C	KIF26B_ENST00000366518.4_Missense_Mutation_p.S193C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	574	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGCCATCTCTTGGCTCTTC	0.537																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(577-579)tCt>tGt		kinesin family member 26B							40.0	40.0	40.0					1																	245772637		1924	4130	6054	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245772637C>G	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1721C>G	1.37:g.245772637C>G	ENSP00000385545:p.Ser574Cys					KIF26B_ENST00000407071.2_Missense_Mutation_p.S574C	p.S193C			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		5	682	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		574					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.578C>G	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675000	0.67928	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76060	-0.99;-0.99	5.07	5.07	0.68467	Kinesin, motor domain (4);	.	.	.	.	D	0.86468	0.5940	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.87966	0.2733	9	0.87932	D	0	.	18.8152	0.92075	0.0:1.0:0.0:0.0	.	193;574	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	574;193;190	ENSP00000385545:S574C;ENSP00000355475:S193C	ENSP00000355475:S193C	S	+	2	0	KIF26B	243839260	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.776000	0.85560	2.520000	0.84964	0.650000	0.86243	TCT		0.537	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		5	12	0	0	0	0.000602	0	5	12				
SLC19A1	6573	broad.mit.edu	37	21	46957703	46957703	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:46957703C>T	ENST00000311124.4	-	2	323	c.171G>A	c.(169-171)aaG>aaA	p.K57K	SLC19A1_ENST00000567670.1_Silent_p.K57K|SLC19A1_ENST00000380010.4_Silent_p.K57K	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	57					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GCGTGAAGTTCTTGTCGGGCC	0.687																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(169-171)aaG>aaA		solute carrier family 19 (folate transporter), member 1							24.0	18.0	20.0					21																	46957703		2196	4288	6484	SO:0001819	synonymous_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46957703C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.171G>A	21.37:g.46957703C>T						SLC19A1_ENST00000567670.1_Silent_p.K57K|SLC19A1_ENST00000380010.4_Silent_p.K57K	p.K57K	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	2	323	-			57					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.171G>A	CCDS13725.1																																																																																				0.687	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			7	7	0	0	0	0.001984	0	7	7				
CCSER1	401145	broad.mit.edu	37	4	91230090	91230090	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:91230090A>G	ENST00000509176.1	+	2	943	c.655A>G	c.(655-657)Aga>Gga	p.R219G	CCSER1_ENST00000333691.8_Missense_Mutation_p.R219G|CCSER1_ENST00000432775.2_Missense_Mutation_p.R219G	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	219																	GTACCAAGAGAGAGAACCTGT	0.408																																						ENST00000509176.1																			0											c.(655-657)Aga>Gga		coiled-coil serine-rich protein 1							57.0	55.0	56.0					4																	91230090		1864	4104	5968	SO:0001583	missense	401145							g.chr4:91230090A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.655A>G	4.37:g.91230090A>G	ENSP00000425040:p.Arg219Gly					CCSER1_ENST00000432775.2_Missense_Mutation_p.R219G|CCSER1_ENST00000333691.8_Missense_Mutation_p.R219G	p.R219G	NM_001145065.1	NP_001138537.1					2	943	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.655A>G	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	8.454	0.853652	0.17106	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.44482	1.49;0.92;1.49	4.66	-1.22	0.09494	.	1.001990	0.08044	N	0.995648	T	0.26919	0.0659	N	0.22421	0.69	0.09310	N	1	B;B;B	0.22480	0.07;0.044;0.044	B;B;B	0.21151	0.033;0.014;0.014	T	0.25433	-1.0132	10	0.29301	T	0.29	-0.0042	8.8399	0.35135	0.4724:0.4572:0.0704:0.0	.	219;219;219	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	G	219	ENSP00000425040:R219G;ENSP00000389283:R219G;ENSP00000329482:R219G	ENSP00000329482:R219G	R	+	1	2	FAM190A	91449113	0.042000	0.20092	0.009000	0.14445	0.951000	0.60555	0.476000	0.22180	-0.262000	0.09392	0.533000	0.62120	AGA		0.408	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		12	30	0	0	0	0.010729	0	12	30				
SIGLEC1	6614	broad.mit.edu	37	20	3669239	3669239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:3669239C>T	ENST00000344754.4	-	21	5097	c.5098G>A	c.(5098-5100)Gag>Aag	p.E1700K	SIGLEC1_ENST00000202578.4_Silent_p.V1675V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1700					cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTTGAGGTCTCACATGTGGCT	0.612																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(5098-5100)Gag>Aag		sialic acid binding Ig-like lectin 1, sialoadhesin							64.0	52.0	56.0					20																	3669239		2201	4300	6501	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3669239C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.5098G>A	20.37:g.3669239C>T	ENSP00000341141:p.Glu1700Lys					SIGLEC1_ENST00000202578.4_Silent_p.V1675V	p.E1700K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			21	5097	-			1700					Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.5098G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184104	0.38609	.	.	ENSG00000088827	ENST00000344754	T	0.21361	2.01	4.06	3.09	0.35607	.	.	.	.	.	T	0.09247	0.0228	N	0.14661	0.345	0.19945	N	0.999949	B	0.30482	0.281	B	0.24155	0.051	T	0.24368	-1.0162	9	0.02654	T	1	.	9.1471	0.36939	0.2179:0.7821:0.0:0.0	.	1700	Q9BZZ2	SN_HUMAN	K	1700	ENSP00000341141:E1700K	ENSP00000341141:E1700K	E	-	1	0	SIGLEC1	3617239	0.138000	0.22547	0.043000	0.18650	0.826000	0.46750	1.256000	0.32921	1.028000	0.39785	0.555000	0.69702	GAG		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		5	18	0	0	0	0.000602	0	5	18				
COL3A1	1281	broad.mit.edu	37	2	189864617	189864617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:189864617C>G	ENST00000304636.3	+	32	2449	c.2279C>G	c.(2278-2280)cCa>cGa	p.P760R	COL3A1_ENST00000317840.5_Missense_Mutation_p.P760R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	760	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAAGATGGCCCAAGGGTGAGT	0.438																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2278-2280)cCa>cGa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						75.0	67.0	69.0					2																	189864617		2203	4292	6495	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189864617C>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2279C>G	2.37:g.189864617C>G	ENSP00000304408:p.Pro760Arg					COL3A1_ENST00000317840.5_Missense_Mutation_p.P760R	p.P760R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		32	2449	+			760			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2279C>G	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	1.624	-0.520720	0.04171	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.98684	-5.07;-5.07	5.35	5.35	0.76521	.	0.182356	0.26931	N	0.021769	D	0.95392	0.8504	L	0.49778	1.585	0.09310	N	1	P	0.37864	0.61	B	0.30646	0.118	D	0.88549	0.3115	10	0.17832	T	0.49	.	5.5764	0.17225	0.1674:0.6786:0.0:0.154	.	760	P02461	CO3A1_HUMAN	R	760	ENSP00000304408:P760R;ENSP00000315243:P760R	ENSP00000304408:P760R	P	+	2	0	COL3A1	189572862	0.278000	0.24230	0.704000	0.30370	0.364000	0.29643	3.360000	0.52299	2.660000	0.90430	0.557000	0.71058	CCA		0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		3	19	0	0	0	0.009096	0	3	19				
CTTNBP2	83992	broad.mit.edu	37	7	117432019	117432019	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:117432019G>C	ENST00000160373.3	-	4	1322	c.1231C>G	c.(1231-1233)Caa>Gaa	p.Q411E	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	411	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGTGTTTGAGCGGTGGGA	0.522																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1231-1233)Caa>Gaa		cortactin binding protein 2							199.0	177.0	185.0					7																	117432019		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432019G>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1231C>G	7.37:g.117432019G>C	ENSP00000160373:p.Gln411Glu						p.Q411E	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1322	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		411			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1231C>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.216641	0.00024	.	.	ENSG00000077063	ENST00000160373	T	0.63744	-0.06	4.52	4.52	0.55395	.	0.571274	0.16235	N	0.223406	T	0.57755	0.2075	M	0.75447	2.3	0.09310	N	1	B	0.21309	0.054	B	0.21360	0.034	T	0.44574	-0.9319	10	0.23891	T	0.37	-3.2383	7.4765	0.27378	0.0879:0.0:0.7447:0.1674	.	411	Q8WZ74	CTTB2_HUMAN	E	411	ENSP00000160373:Q411E	ENSP00000160373:Q411E	Q	-	1	0	CTTNBP2	117219255	0.991000	0.36638	0.096000	0.21009	0.012000	0.07955	2.855000	0.48333	2.500000	0.84329	0.460000	0.39030	CAA		0.522	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		34	115	0	0	0	0.013726	0	34	115				
MAP1LC3B2	643246	broad.mit.edu	37	12	117013807	117013807	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:117013807C>G	ENST00000556529.1	+	1	152	c.60C>G	c.(58-60)gtC>gtG	p.V20V	MAP1LC3B2_ENST00000306985.4_Silent_p.V20V			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	20					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						TAGAAGATGTCCGACTTATTC	0.537																																						ENST00000306985.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(58-60)gtC>gtG		microtubule-associated protein 1 light chain 3 beta 2							126.0	121.0	123.0					12																	117013807		2203	4300	6503	SO:0001819	synonymous_variant	643246				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		g.chr12:117013807C>G		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.60C>G	12.37:g.117013807C>G						MAP1LC3B2_ENST00000556529.1_Silent_p.V20V	p.V20V	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN			2	214	+			20						Silent	SNP	ENST00000556529.1	37	c.60C>G	CCDS41841.1																																																																																				0.537	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		17	96	0	0	0	0.004007	0	17	96				
COLEC12	81035	broad.mit.edu	37	18	335145	335145	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:335145C>A	ENST00000400256.3	-	6	1620	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	471	Collagen-like 1.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTCCCCCTTCTCTCCTTTCT	0.632																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1411-1413)gaG>gaT		collectin sub-family member 12							32.0	34.0	34.0					18																	335145		2196	4293	6489	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335145C>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1413G>T	18.37:g.335145C>A	ENSP00000383115:p.Glu471Asp						p.E471D	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			6	1620	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	471			Collagen-like 1.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1413G>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	7.177	0.588721	0.13812	.	.	ENSG00000158270	ENST00000400256	T	0.16897	2.31	5.66	1.9	0.25705	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.16066	0.365	0.49687	D	0.999811	B	0.13594	0.008	B	0.20184	0.028	T	0.27434	-1.0074	10	0.10111	T	0.7	-28.2131	1.6388	0.02748	0.197:0.4416:0.1023:0.2591	.	471	Q5KU26	COL12_HUMAN	D	471	ENSP00000383115:E471D	ENSP00000383115:E471D	E	-	3	2	COLEC12	325145	0.029000	0.19370	0.996000	0.52242	0.994000	0.84299	-1.123000	0.03263	0.338000	0.23692	0.655000	0.94253	GAG		0.632	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			14	42	1	0	0.00185496	0.001855	0.0020029	14	42				
ANO4	121601	broad.mit.edu	37	12	101504254	101504254	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:101504254A>G	ENST00000392977.3	+	23	2432	c.2222A>G	c.(2221-2223)aAc>aGc	p.N741S	ANO4_ENST00000299222.9_Missense_Mutation_p.N261S|ANO4_ENST00000392979.3_Missense_Mutation_p.N706S|ANO4_ENST00000550015.1_Missense_Mutation_p.N261S			Q32M45	ANO4_HUMAN	anoctamin 4	741					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)			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						TTACTGAATAACATAATTGAA	0.398										HNSCC(74;0.22)																												ENST00000392979.3																			0				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.(2116-2118)aAc>aGc		anoctamin 4							106.0	103.0	104.0					12																	101504254		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101504254A>G	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.2222A>G	12.37:g.101504254A>G	ENSP00000376703:p.Asn741Ser	HNSCC(74;0.22)				ANO4_ENST00000550015.1_Missense_Mutation_p.N261S|ANO4_ENST00000299222.9_Missense_Mutation_p.N261S|ANO4_ENST00000392977.3_Missense_Mutation_p.N741S	p.N706S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			22	2478	+			741					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2117A>G		.	.	.	.	.	.	.	.	.	.	A	24.5	4.534438	0.85812	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.86268	0.5892	M	0.89095	3.005	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.994;0.998;0.997	D	0.89008	0.3426	10	0.72032	D	0.01	.	15.1468	0.72662	1.0:0.0:0.0:0.0	.	261;741;706	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	S	706;261;741;261	ENSP00000376705:N706S;ENSP00000299222:N261S;ENSP00000376703:N741S;ENSP00000450192:N261S	ENSP00000299222:N261S	N	+	2	0	ANO4	100028385	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	1.975000	0.57531	0.533000	0.62120	AAC		0.398	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		3	73	0	0	0	0.004672	0	3	73				
ZNF711	7552	broad.mit.edu	37	X	84525039	84525039	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:84525039G>C	ENST00000373165.3	+	8	1301	c.995G>C	c.(994-996)aGa>aCa	p.R332T	ZNF711_ENST00000395402.1_Missense_Mutation_p.R340T|ZNF711_ENST00000360700.4_Missense_Mutation_p.R378T|ZNF711_ENST00000276123.3_Missense_Mutation_p.R332T|ZNF711_ENST00000542798.1_Missense_Mutation_p.R174T	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	332					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTAGAAAGCAGAAGTAGTACA	0.333																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(1132-1134)aGa>aCa		zinc finger protein 711							93.0	88.0	90.0					X																	84525039		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84525039G>C	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.995G>C	X.37:g.84525039G>C	ENSP00000362260:p.Arg332Thr					ZNF711_ENST00000395402.1_Missense_Mutation_p.R340T|ZNF711_ENST00000542798.1_Missense_Mutation_p.R174T|ZNF711_ENST00000276123.3_Missense_Mutation_p.R332T|ZNF711_ENST00000373165.3_Missense_Mutation_p.R332T	p.R378T			Q9Y462	ZN711_HUMAN			9	2019	+			332					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.1133G>C	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090755	0.36855	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.73	3.72	0.42706	Transcriptional activator, Zfx / Zfy domain (1);	0.161017	0.28834	U	0.013996	T	0.31358	0.0794	L	0.38175	1.15	0.35146	D	0.769331	B;B	0.31413	0.0;0.322	B;B	0.28139	0.002;0.086	T	0.46610	-0.9179	10	0.72032	D	0.01	-12.9971	3.0814	0.06264	0.5349:0.0:0.4651:0.0	.	378;332	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	T	340;332;332;378;174	ENSP00000378798:R340T;ENSP00000362260:R332T;ENSP00000276123:R332T;ENSP00000353922:R378T;ENSP00000442071:R174T	ENSP00000276123:R332T	R	+	2	0	ZNF711	84411695	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	5.147000	0.64851	1.924000	0.55735	0.556000	0.70494	AGA		0.333	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		8	30	0	0	0	0.004482	0	8	30				
CBLL1	79872	broad.mit.edu	37	7	107398754	107398754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:107398754G>A	ENST00000440859.3	+	6	1074	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.E202K	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	203	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGCTTCACTTGAAAATGTTCA	0.458																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(607-609)Gaa>Aaa		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							194.0	175.0	181.0					7																	107398754		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107398754G>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.607G>A	7.37:g.107398754G>A	ENSP00000401277:p.Glu203Lys					CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.E202K	p.E203K	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	1074	+			203					B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.607G>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489334	0.84962	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.34667	1.36;1.35;1.36	5.14	5.14	0.70334	.	0.191121	0.43747	D	0.000524	T	0.43590	0.1254	L	0.55481	1.735	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.46076	0.503;0.503	T	0.34551	-0.9824	10	0.45353	T	0.12	-2.5843	18.9708	0.92713	0.0:0.0:1.0:0.0	.	202;203	B7ZM03;Q75N03	.;HAKAI_HUMAN	K	203;82;202;153;149	ENSP00000401277:E203K;ENSP00000222597:E202K;ENSP00000410615:E153K	ENSP00000222597:E202K	E	+	1	0	CBLL1	107185990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.558000	0.86282	0.655000	0.94253	GAA		0.458	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		57	125	0	0	0	0.014410	0	57	125				
CREBBP	1387	broad.mit.edu	37	16	3777767	3777767	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:3777767G>A	ENST00000262367.5	-	31	8090	c.7281C>T	c.(7279-7281)gtC>gtT	p.V2427V	CREBBP_ENST00000382070.3_Silent_p.V2389V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2427					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGTCCCCGACCAGGGACA	0.562			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(7279-7281)gtC>gtT		CREB binding protein							100.0	102.0	101.0					16																	3777767		2197	4300	6497	SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3777767G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.7281C>T	16.37:g.3777767G>A						CREBBP_ENST00000382070.3_Silent_p.V2389V	p.V2427V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	8090	-		Ovarian(90;0.0266)	2427					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.7281C>T	CCDS10509.1																																																																																				0.562	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		36	131	0	0	0	0.006230	0	36	131				
CXXC1	30827	broad.mit.edu	37	18	47810844	47810844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:47810844G>A	ENST00000285106.6	-	9	1823	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.A374V|CXXC1_ENST00000589940.1_Missense_Mutation_p.A370V|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000353909.3_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000269468.5_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	370					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGGCAGTGACGCAGGGTCCTT	0.597																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1108-1110)gCg>gTg		CXXC finger protein 1																																				SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47810844G>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1109C>T	18.37:g.47810844G>A	ENSP00000285106:p.Ala370Val					CXXC1_ENST00000589940.1_Missense_Mutation_p.A370V|CXXC1_ENST00000412036.2_Missense_Mutation_p.A374V	p.A370V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			9	1823	-			370					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1109C>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	G	9.969	1.224983	0.22457	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.23950	1.89;1.88	3.9	3.9	0.45041	.	0.616851	0.15965	U	0.236046	T	0.11324	0.0276	N	0.03608	-0.345	0.09310	N	0.999996	B;B;B;B	0.29253	0.154;0.239;0.154;0.04	B;B;B;B	0.15870	0.004;0.014;0.004;0.003	T	0.15093	-1.0449	10	0.31617	T	0.26	-6.7102	13.7315	0.62789	0.0:0.0:1.0:0.0	.	370;374;370;237	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	V	370;374	ENSP00000285106:A370V;ENSP00000390475:A374V	ENSP00000285106:A370V	A	-	2	0	CXXC1	46064842	0.546000	0.26457	0.882000	0.34594	0.730000	0.41778	4.221000	0.58574	1.896000	0.54893	0.297000	0.19635	GCG		0.597	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		13	120	0	0	0	0.002450	0	13	120				
OR14J1	442191	broad.mit.edu	37	6	29274980	29274980	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:29274980A>G	ENST00000377160.2	+	1	578	c.514A>G	c.(514-516)Att>Gtt	p.I172V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GAAGAGAGTCATTCACCAATT	0.478																																						ENST00000377160.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(514-516)Att>Gtt		olfactory receptor, family 14, subfamily J, member 1							169.0	168.0	169.0					6																	29274980		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274980A>G		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.514A>G	6.37:g.29274980A>G	ENSP00000366365:p.Ile172Val						p.I172V	NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN			1	578	+			172					A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.514A>G	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	A	9.032	0.987545	0.18966	.	.	ENSG00000204695	ENST00000377160	T	0.00179	8.61	4.86	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.337943	0.21599	N	0.071976	T	0.00073	0.0002	M	0.64080	1.96	0.09310	N	1	B	0.27229	0.172	B	0.31614	0.133	T	0.32534	-0.9903	10	0.09084	T	0.74	.	10.5047	0.44826	0.922:0.0:0.078:0.0	.	172	Q9UGF5	O14J1_HUMAN	V	172	ENSP00000366365:I172V	ENSP00000366365:I172V	I	+	1	0	OR14J1	29382959	0.005000	0.15991	0.011000	0.14972	0.654000	0.38779	0.810000	0.27183	0.976000	0.38417	0.528000	0.53228	ATT		0.478	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			42	90	0	0	0	0.010771	0	42	90				
MRPL12	6182	broad.mit.edu	37	17	79673961	79673961	+	Missense_Mutation	SNP	C	C	T	rs368964351		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:79673961C>T	ENST00000333676.3	+	4	516	c.371C>T	c.(370-372)gCg>gTg	p.A124V	SLC25A10_ENST00000541223.1_Missense_Mutation_p.A124V|SLC25A10_ENST00000571730.1_Missense_Mutation_p.A124V	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	124					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ATCCCCATAGCGAAAGAACGG	0.562																																						ENST00000571730.1																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(370-372)gCg>gTg		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)	C	VAL/ALA	0,4406		0,0,2203	80.0	64.0	70.0		371	-2.4	0.0	17		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	MRPL12	NM_002949.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		124/199	79673961	1,13005	2203	4300	6503	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79673961C>T	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.371C>T	17.37:g.79673961C>T	ENSP00000333837:p.Ala124Val					SLC25A10_ENST00000541223.1_Missense_Mutation_p.A124V|MRPL12_ENST00000333676.3_Missense_Mutation_p.A124V	p.A124V			Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		4	502	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		0					Q969U0|Q9HCA2|Q9UQJ3	Missense_Mutation	SNP	ENST00000333676.3	37	c.371C>T	CCDS11785.1	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073408	0.20147	0.0	1.16E-4	ENSG00000183048	ENST00000541223;ENST00000333676;ENST00000332396	D;T	0.81908	-1.55;0.74	4.24	-2.38	0.06622	.	0.309092	0.34025	N	0.004337	T	0.59432	0.2193	N	0.21194	0.64	0.80722	D	1	B;B	0.34061	0.063;0.436	B;B	0.18561	0.011;0.022	T	0.31586	-0.9938	10	0.31617	T	0.26	-13.6047	4.0184	0.09654	0.4242:0.385:0.071:0.1198	.	124;124	B4DLN1;P52815	.;RM12_HUMAN	V	124	ENSP00000439565:A124V;ENSP00000333837:A124V	ENSP00000330017:A124V	A	+	2	0	SLC25A10	77284366	1.000000	0.71417	0.014000	0.15608	0.023000	0.10783	2.265000	0.43311	-0.780000	0.04553	-1.072000	0.02254	GCG		0.562	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440812.1	NM_002949		17	13	0	0	0	0.006122	0	17	13				
SNCAIP	9627	broad.mit.edu	37	5	121761101	121761101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:121761101C>G	ENST00000261368.8	+	5	1319	c.1057C>G	c.(1057-1059)Cta>Gta	p.L353V	SNCAIP_ENST00000503116.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.L400V|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000504884.2_Missense_Mutation_p.S62C|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	353					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGAAACAATCTATTACATAT	0.428																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1198-1200)Cta>Gta		synuclein, alpha interacting protein							118.0	123.0	121.0					5																	121761101		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121761101C>G	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1057C>G	5.37:g.121761101C>G	ENSP00000261368:p.Leu353Val					SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L353V|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000504884.2_Missense_Mutation_p.S62C|SNCAIP_ENST00000542191.1_Intron	p.L400V			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	7	2626	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	353					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1198C>G	CCDS4131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.52|15.52	2.859191|2.859191	0.51376|0.51376	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000261368;ENST00000379533;ENST00000261367;ENST00000503116|ENST00000504884	T;T;T;T|T	0.63744|0.53423	-0.06;-0.06;-0.06;-0.06|0.62	5.54|5.54	5.54|5.54	0.83059|0.83059	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.56187|0.56187	0.1968|0.1968	L|L	0.38649|0.38649	1.16|1.16	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.916;0.99;0.999|.	P;D;D|.	0.87578|.	0.861;0.979;0.998|.	T|T	0.57900|0.57900	-0.7731|-0.7731	10|7	0.26408|0.87932	T|D	0.33|0	-12.6485|-12.6485	19.4885|19.4885	0.95040|0.95040	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	400;400;353|.	Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5|.	.;.;SNCAP_HUMAN|.	V|C	353;400;400;400|62	ENSP00000261368:L353V;ENSP00000368848:L400V;ENSP00000261367:L400V;ENSP00000423199:L400V|ENSP00000426904:S62C	ENSP00000261367:L400V|ENSP00000378849:S62C	L|S	+|+	1|2	2|0	SNCAIP|SNCAIP	121789000|121789000	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.258000|0.258000	0.26162|0.26162	5.556000|5.556000	0.67307|0.67307	2.609000|2.609000	0.88269|0.88269	0.563000|0.563000	0.77884|0.77884	CTA|TCT		0.428	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			55	54	0	0	0	0.014410	0	55	54				
SUN5	140732	broad.mit.edu	37	20	31590695	31590695	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:31590695C>T	ENST00000356173.3	-	2	200	c.108G>A	c.(106-108)agG>agA	p.R36R	SUN5_ENST00000375523.3_Silent_p.R36R|SUN5_ENST00000375519.2_Silent_p.R36R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	36					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCTCTGCCATCCTGCTGGTGT	0.527																																						ENST00000356173.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(106-108)agG>agA		Sad1 and UNC84 domain containing 5							128.0	118.0	121.0					20																	31590695		2203	4300	6503	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31590695C>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.108G>A	20.37:g.31590695C>T						SUN5_ENST00000375519.2_Silent_p.R36R|SUN5_ENST00000375523.3_Silent_p.R36R	p.R36R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN			2	200	-			36					A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.108G>A	CCDS13209.1																																																																																				0.527	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		19	49	0	0	0	0.010504	0	19	49				
RPS6KC1	26750	broad.mit.edu	37	1	213277818	213277818	+	Silent	SNP	C	C	A	rs56056039	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:213277818C>A	ENST00000366960.3	+	4	435	c.285C>A	c.(283-285)atC>atA	p.I95I	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Silent_p.I83I	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	95	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAACTGTTATCGAAGAGAGAA	0.373													C|||	6	0.00119808	0.0	0.0058	5008	,	,		15385	0.0		0.002	False		,,,				2504	0.0					ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(283-285)atC>atA		ribosomal protein S6 kinase, 52kDa, polypeptide 1		C	,	0,4406		0,0,2203	179.0	170.0	173.0		249,285	-0.3	0.9	1	dbSNP_129	173	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	RPS6KC1	NM_001136138.1,NM_012424.3	,	0,12,6491	AA,AC,CC		0.1395,0.0,0.0923	,	83/1055,95/1067	213277818	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213277818C>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.285C>A	1.37:g.213277818C>A						RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Silent_p.I83I|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR	p.I95I	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	4	435	+			95			PX.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	c.285C>A	CCDS1513.1																																																																																				0.373	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		8	50	1	0	3.09899e-07	0.004482	3.41957e-07	8	50				
PITPNM3	83394	broad.mit.edu	37	17	6373604	6373604	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:6373604G>A	ENST00000262483.8	-	13	1836	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.D547D	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	583	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGCCACCACGTCTGTGGACT	0.652																																						ENST00000262483.8																			0											c.(1747-1749)gaC>gaT									92.0	65.0	74.0					17																	6373604		2203	4300	6503	SO:0001819	synonymous_variant	83394							g.chr17:6373604G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1749C>T	17.37:g.6373604G>A						ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Silent_p.D547D	p.D583D	NM_031220.3	NP_112497.2					13	1836	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.1749C>T	CCDS11076.1																																																																																				0.652	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		5	16	0	0	0	0.000602	0	5	16				
METTL21C	196541	broad.mit.edu	37	13	103338495	103338495	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:103338495G>A	ENST00000267273.6	-	4	686	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	227					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AGTCGGTGCTGAACCTGAATT	0.443																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(679-681)ttC>ttT		methyltransferase like 21C							82.0	75.0	77.0					13																	103338495		2203	4300	6503	SO:0001819	synonymous_variant	196541						methyltransferase activity	g.chr13:103338495G>A		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.681C>T	13.37:g.103338495G>A							p.F227F	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			4	686	-			227						Silent	SNP	ENST00000267273.6	37	c.681C>T	CCDS32003.1																																																																																				0.443	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		12	42	0	0	0	0.010729	0	12	42				
ZNF521	25925	broad.mit.edu	37	18	22806343	22806343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:22806343G>C	ENST00000361524.3	-	4	1687	c.1539C>G	c.(1537-1539)ttC>ttG	p.F513L	ZNF521_ENST00000584787.1_Missense_Mutation_p.F293L|ZNF521_ENST00000538137.2_Missense_Mutation_p.F513L|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	513					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGGACAAAAGAATGCATTAC	0.458			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1537-1539)ttC>ttG		zinc finger protein 521							81.0	85.0	84.0					18																	22806343		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806343G>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1539C>G	18.37:g.22806343G>C	ENSP00000354794:p.Phe513Leu					ZNF521_ENST00000584787.1_Missense_Mutation_p.F293L|ZNF521_ENST00000538137.2_Missense_Mutation_p.F513L	p.F513L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1687	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		513					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1539C>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	8.268	0.812606	0.16537	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.30981	1.51;1.51	5.87	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.34521	1.04	0.34795	D	0.736073	D	0.76494	0.999	D	0.85130	0.997	T	0.54866	-0.8229	10	0.72032	D	0.01	-25.4693	10.3523	0.43943	0.2012:0.0:0.7988:0.0	.	513	Q96K83	ZN521_HUMAN	L	513;547;513	ENSP00000354794:F513L;ENSP00000382352:F513L	ENSP00000354794:F513L	F	-	3	2	ZNF521	21060341	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.570000	0.60872	0.833000	0.34828	-0.127000	0.14921	TTC		0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		21	51	0	0	0	0.008871	0	21	51				
PLCE1	51196	broad.mit.edu	37	10	95791831	95791831	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791831G>C	ENST00000371380.3	+	1	1263	c.1028G>C	c.(1027-1029)gGa>gCa	p.G343A	PLCE1_ENST00000260766.3_Missense_Mutation_p.G343A			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	343					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGTATACTGGAACAAGAGCA	0.423																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(1027-1029)gGa>gCa		phospholipase C, epsilon 1							76.0	78.0	78.0					10																	95791831		1907	4124	6031	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791831G>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1028G>C	10.37:g.95791831G>C	ENSP00000360431:p.Gly343Ala					PLCE1_ENST00000371380.2_Missense_Mutation_p.G343A	p.G343A	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	1662	+		Colorectal(252;0.0458)	343					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1028G>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631390	0.67015	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.71103	-0.54;-0.54	5.14	5.14	0.70334	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.53938	D	0.000059	T	0.77356	0.4118	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.80788	-0.1226	10	0.87932	D	0	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	343;343	B7ZM61;Q9P212	.;PLCE1_HUMAN	A	343	ENSP00000260766:G343A;ENSP00000360431:G343A	ENSP00000260766:G343A	G	+	2	0	PLCE1	95781821	1.000000	0.71417	0.998000	0.56505	0.741000	0.42261	7.539000	0.82063	2.398000	0.81561	0.655000	0.94253	GGA		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		9	39	0	0	0	0.004482	0	9	39				
MAPK8IP3	23162	broad.mit.edu	37	16	1812845	1812845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:1812845G>A	ENST00000250894.4	+	16	1890	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R572H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	578					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGCTTCAGCCGCCTCTTCAGC	0.677																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(1732-1734)cGc>cAc		mitogen-activated protein kinase 8 interacting protein 3							48.0	64.0	59.0					16																	1812845		2005	4155	6160	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1812845G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1733G>A	16.37:g.1812845G>A	ENSP00000250894:p.Arg578His					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R572H	p.R578H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			16	1890	+			578					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1733G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885336	0.91814	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	D;D	0.88664	-2.41;-2.41	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.93772	0.8009	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.943;0.925;0.996	D	0.92926	0.6359	10	0.40728	T	0.16	-25.8058	18.7182	0.91684	0.0:0.0:1.0:0.0	.	579;572;578	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	H	578;572	ENSP00000250894:R578H;ENSP00000348290:R572H	ENSP00000250894:R578H	R	+	2	0	MAPK8IP3	1752846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.898000	0.87363	2.513000	0.84729	0.561000	0.74099	CGC		0.677	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		28	66	0	0	0	0.004656	0	28	66				
SIGLEC12	89858	broad.mit.edu	37	19	51994964	51994964	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:51994964C>T	ENST00000291707.3	-	8	1774	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	SIGLEC12_ENST00000598614.1_Silent_p.A455A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	573					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACTGAGGCCTCGCTTTGTGGA	0.597																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(1717-1719)gcG>gcA		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							111.0	96.0	101.0					19																	51994964		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:51994964C>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1719G>A	19.37:g.51994964C>T						SIGLEC12_ENST00000598614.1_Silent_p.A455A	p.A573A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	1774	-		all_neural(266;0.0199)	573					Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.1719G>A	CCDS12833.1																																																																																				0.597	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		16	159	0	0	0	0.006122	0	16	159				
ZNF765	91661	broad.mit.edu	37	19	53912281	53912281	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53912281G>A	ENST00000396408.3	+	4	1590	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ATACTGGACAGAAACCTTACA	0.378																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(1471-1473)caG>caA		zinc finger protein 765							65.0	69.0	68.0					19																	53912281		2201	4300	6501	SO:0001819	synonymous_variant	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912281G>A	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1473G>A	19.37:g.53912281G>A						ZNF765_ENST00000594030.1_Intron	p.Q491Q	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	1590	+			491					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Silent	SNP	ENST00000396408.3	37	c.1473G>A	CCDS46171.1																																																																																				0.378	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		13	98	0	0	0	0.001855	0	13	98				
AMBP	259	broad.mit.edu	37	9	116823771	116823771	+	Silent	SNP	G	G	A	rs374833274		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:116823771G>A	ENST00000265132.3	-	8	1048	c.786C>T	c.(784-786)ggC>ggT	p.G262G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	262	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCATGCAGCCGCCGTACTGGA	0.577																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(784-786)ggC>ggT		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	G		0,4406		0,0,2203	78.0	73.0	75.0		786	-4.8	0.9	9		75	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	AMBP	NM_001633.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		262/353	116823771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116823771G>A	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.786C>T	9.37:g.116823771G>A							p.G262G	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			8	1048	-			262			BPTI/Kunitz inhibitor 1.		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.786C>T	CCDS6800.1																																																																																				0.577	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		24	86	0	0	0	0.003330	0	24	86				
CECR1	51816	broad.mit.edu	37	22	17662734	17662734	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:17662734T>A	ENST00000399839.1	-	9	1688	c.1418A>T	c.(1417-1419)aAa>aTa	p.K473I	CECR1_ENST00000399837.2_Missense_Mutation_p.K473I|CECR1_ENST00000262607.3_Missense_Mutation_p.K473I|CECR1_ENST00000330232.4_Missense_Mutation_p.K232I|CECR1_ENST00000449907.2_Missense_Mutation_p.K431I	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	473					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGCCAGCTGTTTGAGGGTCCT	0.547																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1417-1419)aAa>aTa		cat eye syndrome chromosome region, candidate 1							88.0	77.0	81.0					22																	17662734		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662734T>A	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1418A>T	22.37:g.17662734T>A	ENSP00000382733:p.Lys473Ile					CECR1_ENST00000330232.4_Missense_Mutation_p.K232I|CECR1_ENST00000399837.2_Missense_Mutation_p.K473I|CECR1_ENST00000449907.2_Missense_Mutation_p.K431I|CECR1_ENST00000262607.3_Missense_Mutation_p.K473I	p.K473I			Q9NZK5	CECR1_HUMAN			9	1688	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	473					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.1418A>T	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389421	0.82902	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86	3.71	3.71	0.42584	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.94964	3.605	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98755	1.0722	10	0.87932	D	0	.	12.4146	0.55486	0.0:0.0:0.0:1.0	.	473;232	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	I	473;232;473;431;473	ENSP00000382733:K473I;ENSP00000332871:K232I;ENSP00000262607:K473I;ENSP00000406443:K431I;ENSP00000382731:K473I	ENSP00000262607:K473I	K	-	2	0	CECR1	16042734	1.000000	0.71417	0.877000	0.34402	0.987000	0.75469	4.975000	0.63777	1.316000	0.45131	0.459000	0.35465	AAA		0.547	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			26	50	0	0	0	0.004656	0	26	50				
ELAVL4	1996	broad.mit.edu	37	1	50610702	50610702	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:50610702A>G	ENST00000371823.4	+	2	307	c.83A>G	c.(82-84)aAc>aGc	p.N28S	ELAVL4_ENST00000371827.1_Missense_Mutation_p.N28S|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371819.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371824.1_Missense_Mutation_p.N28S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.N31S|ELAVL4_ENST00000357083.4_Missense_Mutation_p.N45S	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	28					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCCAGCAACAACAGAAACTGT	0.418																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(82-84)aAc>aGc		ELAV like neuron-specific RNA binding protein 4							97.0	85.0	89.0					1																	50610702		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50610702A>G	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.83A>G	1.37:g.50610702A>G	ENSP00000360888:p.Asn28Ser					ELAVL4_ENST00000371819.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.N45S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.N31S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.N28S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.N28S	p.N28S			P26378	ELAV4_HUMAN			2	340	+			28					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.83A>G	CCDS553.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621687	0.28889	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	6.16	3.83	0.44106	Nucleotide-binding, alpha-beta plait (1);	0.117133	0.85682	D	0.000000	T	0.16854	0.0405	N	0.12182	0.205	0.41997	D	0.990879	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B	0.08055	0.001;0.001;0.002;0.0;0.001;0.003;0.001	T	0.07712	-1.0758	10	0.22706	T	0.39	.	4.6399	0.12543	0.593:0.0:0.407:0.0	.	33;33;28;28;45;28;31	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	S	31;28;45;28;28;33;33	ENSP00000399939:N31S;ENSP00000360892:N28S;ENSP00000349594:N45S;ENSP00000360889:N28S;ENSP00000360888:N28S;ENSP00000360886:N33S;ENSP00000360884:N33S	ENSP00000349594:N45S	N	+	2	0	ELAVL4	50383289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.843000	0.48238	1.141000	0.42275	0.528000	0.53228	AAC		0.418	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		12	25	0	0	0	0.010729	0	12	25				
PAPPA2	60676	broad.mit.edu	37	1	176564443	176564443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:176564443G>A	ENST00000367662.3	+	3	2867	c.1703G>A	c.(1702-1704)aGc>aAc	p.S568N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S568N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	568	Metalloprotease.			S -> N (in Ref. 2; AAL17780). {ECO:0000305}.	bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGCAGCTGAGCGTCCACCAG	0.567																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1702-1704)aGc>aAc		pappalysin 2							83.0	86.0	85.0					1																	176564443		2139	4238	6377	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564443G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1703G>A	1.37:g.176564443G>A	ENSP00000356634:p.Ser568Asn					PAPPA2_ENST00000367661.3_Missense_Mutation_p.S568N	p.S568N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2867	+			568	S -> N (in Ref. 2; AAL17780).		Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1703G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722369	0.30503	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.47177	0.85;0.85	5.11	4.2	0.49525	.	0.247626	0.45606	D	0.000349	T	0.35278	0.0926	L	0.38175	1.15	0.31076	N	0.712453	B;B	0.16166	0.002;0.016	B;B	0.16722	0.009;0.016	T	0.33137	-0.9880	10	0.36615	T	0.2	-6.2429	8.3345	0.32206	0.2408:0.0:0.7592:0.0	.	568;568	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	568	ENSP00000356634:S568N;ENSP00000356633:S568N	ENSP00000356633:S568N	S	+	2	0	PAPPA2	174831066	0.006000	0.16342	0.783000	0.31826	0.865000	0.49528	0.365000	0.20348	1.148000	0.42385	0.557000	0.71058	AGC		0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			21	81	0	0	0	0.010504	0	21	81				
DMD	1756	broad.mit.edu	37	X	31986549	31986549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:31986549G>C	ENST00000357033.4	-	45	6727	c.6521C>G	c.(6520-6522)tCa>tGa	p.S2174*	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.S2170*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2174					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTGTTTTTGAGGATTGCTG	0.458																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6520-6522)tCa>tGa		dystrophin							109.0	97.0	101.0					X																	31986549		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31986549G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6521C>G	X.37:g.31986549G>C	ENSP00000354923:p.Ser2174*					DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.S2170*|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	p.S2174*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			45	6727	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2174					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.6521C>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	49	15.110781	0.99822	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.37	5.37	0.77165	.	0.000000	0.30356	U	0.009817	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.2351	0.89947	0.0:0.0:1.0:0.0	.	.	.	.	X	2166;833;830;2170;2174;2174;2051	.	ENSP00000354923:S2174X	S	-	2	0	DMD	31896470	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.453000	0.66645	2.244000	0.73946	0.538000	0.68166	TCA		0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		23	72	0	0	0	0.012319	0	23	72				
ZNF630	57232	broad.mit.edu	37	X	47918145	47918145	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:47918145C>G	ENST00000409324.3	-	5	1912	c.1686G>C	c.(1684-1686)caG>caC	p.Q562H	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.Q548H|ZNF630_ENST00000276054.4_Missense_Mutation_p.Q438H	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	562					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)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TATGACCTCTCTGATGTAGAA	0.448																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(1312-1314)caG>caC		zinc finger protein 630							55.0	48.0	50.0					X																	47918145		2192	4287	6479	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918145C>G	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1686G>C	X.37:g.47918145C>G	ENSP00000386393:p.Gln562His					ZNF630_ENST00000409324.3_Missense_Mutation_p.Q562H|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.Q548H	p.Q438H			Q2M218	ZN630_HUMAN			5	2248	-			562					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.1314G>C	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259266	0.39995	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.07567	3.18;3.18;3.18	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18215	0.0437	L	0.49699	1.58	0.26163	N	0.979972	D	0.65815	0.995	P	0.61328	0.887	T	0.03840	-1.0999	9	0.59425	D	0.04	.	9.8164	0.40856	0.0:1.0:0.0:0.0	.	562	Q2M218	ZN630_HUMAN	H	548;438;562	ENSP00000393163:Q548H;ENSP00000354683:Q438H;ENSP00000386393:Q562H	ENSP00000354683:Q438H	Q	-	3	2	ZNF630	47803089	0.000000	0.05858	0.993000	0.49108	0.813000	0.45954	-0.211000	0.09332	1.179000	0.42884	0.544000	0.68410	CAG		0.448	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		10	11	0	0	0	0.008291	0	10	11				
DLK1	8788	broad.mit.edu	37	14	101201194	101201194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:101201194G>A	ENST00000341267.4	+	5	1355	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	RP11-566J3.4_ENST00000608876.1_lincRNA|DLK1_ENST00000331224.6_Missense_Mutation_p.M298I	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	371					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGATCGACATGACCACCTTCA	0.562																																						ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(1111-1113)atG>atA		delta-like 1 homolog (Drosophila)							95.0	94.0	95.0					14																	101201194		2203	4300	6503	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101201194G>A	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.1113G>A	14.37:g.101201194G>A	ENSP00000340292:p.Met371Ile					DLK1_ENST00000331224.6_Missense_Mutation_p.M298I	p.M371I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	1355	+		Melanoma(154;0.155)	371					P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.1113G>A	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418540	0.42918	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	D;D	0.86366	-2.11;-2.04	4.61	4.61	0.57282	.	0.173227	0.37012	N	0.002297	D	0.84211	0.5422	N	0.14661	0.345	0.80722	D	1	P;B	0.44281	0.831;0.07	P;B	0.54664	0.758;0.01	D	0.85537	0.1213	10	0.54805	T	0.06	.	11.6698	0.51395	0.0:0.0:0.823:0.177	.	298;371	P80370-2;P80370	.;DLK1_HUMAN	I	371;298	ENSP00000340292:M371I;ENSP00000331081:M298I	ENSP00000331081:M298I	M	+	3	0	DLK1	100270947	1.000000	0.71417	0.931000	0.37212	0.017000	0.09413	2.992000	0.49417	2.113000	0.64589	0.491000	0.48974	ATG		0.562	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			35	97	0	0	0	0.004878	0	35	97				
PLEC	5339	broad.mit.edu	37	8	144998292	144998292	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:144998292C>T	ENST00000322810.4	-	31	6385	c.6216G>A	c.(6214-6216)gaG>gaA	p.E2072E	PLEC_ENST00000354958.2_Silent_p.E1913E|PLEC_ENST00000398774.2_Silent_p.E1903E|PLEC_ENST00000436759.2_Silent_p.E1962E|PLEC_ENST00000356346.3_Silent_p.E1921E|PLEC_ENST00000527096.1_Silent_p.E1958E|PLEC_ENST00000357649.2_Silent_p.E1939E|PLEC_ENST00000354589.3_Silent_p.E1935E|PLEC_ENST00000345136.3_Silent_p.E1935E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2072	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCCGCCTTCTCGAAGCTCG	0.701																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(6214-6216)gaG>gaA		plectin							15.0	17.0	16.0					8																	144998292		2183	4262	6445	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144998292C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6216G>A	8.37:g.144998292C>T						PLEC_ENST00000354958.2_Silent_p.E1913E|PLEC_ENST00000436759.2_Silent_p.E1962E|PLEC_ENST00000398774.2_Silent_p.E1903E|PLEC_ENST00000354589.3_Silent_p.E1935E|PLEC_ENST00000357649.2_Silent_p.E1939E|PLEC_ENST00000345136.3_Silent_p.E1935E|PLEC_ENST00000527096.1_Silent_p.E1958E|PLEC_ENST00000356346.3_Silent_p.E1921E	p.E2072E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	6385	-			2072			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.6216G>A	CCDS43772.1																																																																																				0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	28	0	0	0	0.002450	0	15	28				
SCAF4	57466	broad.mit.edu	37	21	33057747	33057747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:33057747G>A	ENST00000286835.7	-	18	2642	c.2260C>T	c.(2260-2262)Cct>Tct	p.P754S	SCAF4_ENST00000399804.1_Missense_Mutation_p.P754S|SCAF4_ENST00000434667.3_Missense_Mutation_p.P739S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	754						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGGAGGAGGAATGGATACT	0.453																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2260-2262)Cct>Tct		SR-related CTD-associated factor 4							103.0	102.0	103.0					21																	33057747		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33057747G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2260C>T	21.37:g.33057747G>A	ENSP00000286835:p.Pro754Ser					SCAF4_ENST00000434667.3_Missense_Mutation_p.P739S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P754S	p.P754S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			18	2642	-			754					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2260C>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290197	0.40494	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.58358	0.68;0.7;0.34	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	T	0.59018	0.2163	L	0.38838	1.175	0.49389	D	0.99978	D;P;D;D	0.60575	0.979;0.948;0.988;0.979	P;P;P;P	0.56216	0.628;0.533;0.794;0.628	T	0.50074	-0.8870	10	0.24483	T	0.36	-13.5058	19.9772	0.97314	0.0:0.0:1.0:0.0	.	739;754;754;754	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	S	739;754;754	ENSP00000402377:P739S;ENSP00000286835:P754S;ENSP00000382703:P754S	ENSP00000286835:P754S	P	-	1	0	SCAF4	31979618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.724000	0.93272	0.563000	0.77884	CCT		0.453	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		12	63	0	0	0	0.004990	0	12	63				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			9	169	0	0	0	0.004482	0	9	169				
OR9A4	130075	broad.mit.edu	37	7	141619579	141619579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:141619579C>T	ENST00000548136.1	+	1	963	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGAGGCCCTTCGGGATGGGGT	0.423																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(904-906)Cgg>Tgg		olfactory receptor, family 9, subfamily A, member 4							94.0	96.0	96.0					7																	141619579		2071	4246	6317	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619579C>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.904C>T	7.37:g.141619579C>T	ENSP00000448789:p.Arg302Trp					MGAM_ENST00000497554.1_Intron	p.R302W	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	963	+	Melanoma(164;0.0171)		302					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.904C>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	C	3.977	-0.007230	0.07773	.	.	ENSG00000258083	ENST00000548136	T	0.40225	1.04	3.7	-0.787	0.10943	.	.	.	.	.	T	0.28167	0.0695	L	0.39898	1.24	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.27706	-1.0066	9	0.52906	T	0.07	0.029	2.8696	0.05613	0.3775:0.3949:0.0:0.2276	.	302	Q8NGU2	OR9A4_HUMAN	W	302	ENSP00000448789:R302W	ENSP00000386148:R302W	R	+	1	2	OR9A4	141266048	0.000000	0.05858	0.070000	0.20053	0.159000	0.22180	-2.665000	0.00848	0.023000	0.15187	-0.203000	0.12734	CGG		0.423	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		21	70	0	0	0	0.014323	0	21	70				
HSD3B1	3283	broad.mit.edu	37	1	120057080	120057080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:120057080C>T	ENST00000369413.3	+	4	1079	c.934C>T	c.(934-936)Cga>Tga	p.R312*	HSD3B1_ENST00000235547.6_Nonsense_Mutation_p.R314*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.R312*			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	312					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TTACACCTATCGACCGCCCTT	0.473																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(940-942)Cga>Tga		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						109.0	108.0	108.0					1																	120057080		2203	4300	6503	SO:0001587	stop_gained	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120057080C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.934C>T	1.37:g.120057080C>T	ENSP00000358421:p.Arg312*					HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.R312*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.R312*	p.R314*	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	1079	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	312					A8K691|Q14545|Q8IV65	Nonsense_Mutation	SNP	ENST00000369413.3	37	c.940C>T	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900367	0.33535	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	.	.	.	3.26	-0.455	0.12193	.	1.460970	0.04411	N	0.366031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-16.5012	5.1421	0.14965	0.3712:0.3138:0.315:0.0	.	.	.	.	X	312;314;312	.	ENSP00000235547:R314X	R	+	1	2	HSD3B1	119858603	0.000000	0.05858	0.002000	0.10522	0.065000	0.16274	-0.605000	0.05661	0.133000	0.18654	0.313000	0.20887	CGA		0.473	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		40	118	0	0	0	0.006230	0	40	118				
IRF2BP2	359948	broad.mit.edu	37	1	234745081	234745081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:234745081C>A	ENST00000366609.3	-	1	190	c.160G>T	c.(160-162)Gag>Tag	p.E54*	IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.E54*|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	54					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGCGCCGTCTCGATGACGAAC	0.746																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(160-162)Gag>Tag		interferon regulatory factor 2 binding protein 2							7.0	7.0	7.0					1																	234745081		2112	4182	6294	SO:0001587	stop_gained	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234745081C>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.160G>T	1.37:g.234745081C>A	ENSP00000355568:p.Glu54*					IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.E54*|RP4-781K5.2_ENST00000436039.1_RNA	p.E54*	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		1	190	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	54					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Nonsense_Mutation	SNP	ENST00000366609.3	37	c.160G>T	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231862	0.39399	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	.	.	.	2.5	1.55	0.23275	.	0.473696	0.20520	U	0.090706	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.886	0.41262	0.0:0.7876:0.2124:0.0	.	.	.	.	X	54	.	ENSP00000355568:E54X	E	-	1	0	IRF2BP2	232811704	1.000000	0.71417	0.843000	0.33291	0.008000	0.06430	6.123000	0.71614	0.235000	0.21160	-1.445000	0.01065	GAG		0.746	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		4	5	1	0	0.00116845	0.001168	0.00126552	4	5				
XRCC6	2547	broad.mit.edu	37	22	42033722	42033722	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:42033722G>C	ENST00000359308.4	+	5	1355	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	XRCC6_ENST00000405506.1_Missense_Mutation_p.E184Q|XRCC6_ENST00000360079.3_Missense_Mutation_p.E234Q|XRCC6_ENST00000405878.1_Missense_Mutation_p.E234Q|XRCC6_ENST00000428575.2_Missense_Mutation_p.E101Q|XRCC6_ENST00000402580.3_Missense_Mutation_p.E193Q			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	234					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTCACTTTGAGGAATCCAG	0.537								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(700-702)Gag>Cag	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							48.0	41.0	43.0					22																	42033722		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42033722G>C	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.700G>C	22.37:g.42033722G>C	ENSP00000352257:p.Glu234Gln					XRCC6_ENST00000360079.3_Missense_Mutation_p.E234Q|XRCC6_ENST00000402580.3_Missense_Mutation_p.E193Q|XRCC6_ENST00000428575.2_Missense_Mutation_p.E101Q|XRCC6_ENST00000405878.1_Missense_Mutation_p.E234Q|XRCC6_ENST00000405506.1_Missense_Mutation_p.E184Q	p.E234Q			P12956	XRCC6_HUMAN			5	1355	+			234					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.700G>C	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971006	0.53614	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.6	5.6	0.85130	Ku70/Ku80, N-terminal alpha/beta (1);	0.090075	0.85682	D	0.000000	T	0.50069	0.1594	L	0.39397	1.21	0.58432	D	0.99999	B;B;B;B	0.25904	0.019;0.011;0.137;0.042	B;B;B;B	0.32677	0.055;0.028;0.15;0.055	T	0.46034	-0.9220	9	0.35671	T	0.21	-30.9788	11.0331	0.47785	0.1433:0.0:0.8567:0.0	.	184;234;193;234	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	Q	234;193;101;234;234;234;184	.	ENSP00000352257:E234Q	E	+	1	0	XRCC6	40363668	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.706000	0.54830	2.628000	0.89032	0.655000	0.94253	GAG		0.537	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		3	18	0	0	0	0.004672	0	3	18				
BIRC6	57448	broad.mit.edu	37	2	32724766	32724766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:32724766C>G	ENST00000421745.2	+	46	8755	c.8621C>G	c.(8620-8622)tCa>tGa	p.S2874*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2874					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCACTTGCTCAGACAAAGTA	0.433																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(8620-8622)tCa>tGa		baculoviral IAP repeat containing 6							205.0	204.0	205.0					2																	32724766		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32724766C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8621C>G	2.37:g.32724766C>G	ENSP00000393596:p.Ser2874*						p.S2874*	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			46	8755	+	Acute lymphoblastic leukemia(172;0.155)		2874					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.8621C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	51	17.606523	0.99890	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.6002	0.95559	0.0:1.0:0.0:0.0	.	.	.	.	X	2874	.	ENSP00000393596:S2874X	S	+	2	0	BIRC6	32578270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.691000	0.91804	0.655000	0.94253	TCA		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		44	123	0	0	0	0.014410	0	44	123				
ACBD6	84320	broad.mit.edu	37	1	180471273	180471273	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:180471273G>A	ENST00000367595.3	-	1	816	c.129C>T	c.(127-129)gcC>gcT	p.A43A		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	43	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.					cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CAAACAGCTCGGCCAGGCAAC	0.612																																						ENST00000367595.3																		ACBD6/RRP15(2)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						c.(127-129)gcC>gcT		acyl-CoA binding domain containing 6							39.0	40.0	39.0					1																	180471273		2203	4300	6503	SO:0001819	synonymous_variant	84320					cytoplasm|nucleus	fatty-acyl-CoA binding	g.chr1:180471273G>A	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.129C>T	1.37:g.180471273G>A							p.A43A	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN			1	816	-			43			ACB.			Silent	SNP	ENST00000367595.3	37	c.129C>T	CCDS1339.1																																																																																				0.612	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360		9	33	0	0	0	0.004482	0	9	33				
CFP	5199	broad.mit.edu	37	X	47486681	47486681	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:47486681A>G	ENST00000396992.3	-	5	745	c.625T>C	c.(625-627)Tgc>Cgc	p.C209R	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Missense_Mutation_p.C209R|CFP_ENST00000377005.2_Missense_Mutation_p.C209R	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	209	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCACCGTGGCAGGAGGCTGAG	0.667																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(625-627)Tgc>Cgc		complement factor properdin							31.0	37.0	35.0					X																	47486681		2202	4299	6501	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486681A>G	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.625T>C	X.37:g.47486681A>G	ENSP00000380189:p.Cys209Arg					CFP_ENST00000377005.2_Missense_Mutation_p.C209R|CFP_ENST00000396992.3_Missense_Mutation_p.C209R	p.C209R	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			6	866	-			209			TSP type-1 3.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.625T>C	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770783	0.49680	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.09	5.09	0.68999	.	0.241866	0.44285	D	0.000461	D	0.98874	0.9619	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.992;0.999	D	0.98688	1.0695	10	0.66056	D	0.02	.	10.4497	0.44516	1.0:0.0:0.0:0.0	.	145;209	B3KVK6;P27918	.;PROP_HUMAN	R	209;209;209;74	ENSP00000380189:C209R;ENSP00000247153:C209R;ENSP00000366204:C209R;ENSP00000418258:C74R	ENSP00000247153:C209R	C	-	1	0	CFP	47371625	1.000000	0.71417	0.910000	0.35882	0.402000	0.30811	4.837000	0.62796	1.806000	0.52798	0.483000	0.47432	TGC		0.667	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		3	14	0	0	0	0.009096	0	3	14				
C17orf74	201243	broad.mit.edu	37	17	7330746	7330746	+	Missense_Mutation	SNP	C	C	T	rs200505211		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7330746C>T	ENST00000333870.3	+	3	1510	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	479						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGGTCCAGCTCACTGCCACCG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16405	0.0		0.0	False		,,,				2504	0.0					ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1435-1437)tCa>tTa		chromosome 17 open reading frame 74							24.0	28.0	27.0					17																	7330746		2104	4217	6321	SO:0001583	missense	201243					integral to membrane		g.chr17:7330746C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1436C>T	17.37:g.7330746C>T	ENSP00000328061:p.Ser479Leu					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	p.S479L	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	1510	+		Prostate(122;0.157)	479						Missense_Mutation	SNP	ENST00000333870.3	37	c.1436C>T	CCDS42255.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.70	2.912273	0.52439	.	.	ENSG00000184560	ENST00000333870	T	0.36157	1.27	4.33	4.33	0.51752	.	0.000000	0.28700	U	0.014436	T	0.46946	0.1419	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.47195	-0.9136	10	0.87932	D	0	-9.6112	12.5035	0.55968	0.0:1.0:0.0:0.0	.	479	Q0P670	CQ074_HUMAN	L	479	ENSP00000328061:S479L	ENSP00000328061:S479L	S	+	2	0	C17orf74	7271470	0.546000	0.26457	0.446000	0.26920	0.370000	0.29829	3.526000	0.53509	2.403000	0.81681	0.313000	0.20887	TCA		0.632	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		13	32	0	0	0	0.013537	0	13	32				
KCTD2	23510	broad.mit.edu	37	17	73049121	73049121	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:73049121A>T	ENST00000322444.6	+	3	467	c.461A>T	c.(460-462)gAa>gTa	p.E154V	KCTD2_ENST00000581589.1_De_novo_Start_OutOfFrame	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	154	BTB.				protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					GTGCTGGAGGAAGCGGAGTTT	0.463																																						ENST00000581589.1																			0				kidney(1)|lung(2)	3								potassium channel tetramerization domain containing 2							126.0	107.0	113.0					17																	73049121		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73049121A>T	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.461A>T	17.37:g.73049121A>T	ENSP00000312814:p.Glu154Val					KCTD2_ENST00000322444.6_Missense_Mutation_p.E154V				Q14681	KCTD2_HUMAN			0	446	+	all_lung(278;0.226)								Translation_Start_Site	SNP	ENST00000322444.6	37		CCDS32728.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661191	0.88154	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	D	0.87179	-2.22	5.61	5.61	0.85477	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.105146	0.64402	D	0.000005	D	0.94778	0.8314	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95592	0.8655	10	0.62326	D	0.03	.	15.7934	0.78384	1.0:0.0:0.0:0.0	.	154	Q14681	KCTD2_HUMAN	V	154;136	ENSP00000312814:E154V	ENSP00000312814:E154V	E	+	2	0	KCTD2	70560716	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.228000	0.95250	2.127000	0.65507	0.533000	0.62120	GAA		0.463	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			20	21	0	0	0	0.012319	0	20	21				
KCNH8	131096	broad.mit.edu	37	3	19295208	19295208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:19295208G>A	ENST00000328405.2	+	2	405	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	47	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTACTGTTCCGATGGCTTCTG	0.453																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(139-141)Gat>Aat		potassium voltage-gated channel, subfamily H (eag-related), member 8							184.0	186.0	185.0					3																	19295208		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19295208G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.139G>A	3.37:g.19295208G>A	ENSP00000328813:p.Asp47Asn						p.D47N	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			2	405	+			47			PAS.		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.139G>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551994	0.96501	.	.	ENSG00000183960	ENST00000328405	D	0.99582	-6.22	5.58	5.58	0.84498	PAS fold-3 (1);PAS (1);	0.000000	0.32372	U	0.006186	D	0.99609	0.9858	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98554	1.0638	9	.	.	.	.	19.5716	0.95423	0.0:0.0:1.0:0.0	.	47;47	B7Z398;Q96L42	.;KCNH8_HUMAN	N	47	ENSP00000328813:D47N	.	D	+	1	0	KCNH8	19270212	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.771000	0.98977	2.611000	0.88343	0.655000	0.94253	GAT		0.453	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		12	103	0	0	0	0.010729	0	12	103				
TANC1	85461	broad.mit.edu	37	2	160086120	160086120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:160086120G>A	ENST00000263635.6	+	27	4420	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K	TANC1_ENST00000454300.1_Missense_Mutation_p.E1289K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1395					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGACCTGCAAGAGGCTGTGAA	0.473																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(4183-4185)Gag>Aag		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							24.0	28.0	27.0					2																	160086120		1990	4163	6153	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160086120G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4183G>A	2.37:g.160086120G>A	ENSP00000263635:p.Glu1395Lys					TANC1_ENST00000454300.1_Missense_Mutation_p.E1289K	p.E1395K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	4420	+			1395					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.4183G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670389	0.96754	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.71103	-0.54;-0.54	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	L	0.28608	0.87	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74160	-0.3755	9	.	.	.	.	20.3125	0.98645	0.0:0.0:1.0:0.0	.	1395	Q9C0D5	TANC1_HUMAN	K	1289;1395	ENSP00000396339:E1289K;ENSP00000263635:E1395K	.	E	+	1	0	TANC1	159794366	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.824000	0.99380	2.806000	0.96561	0.655000	0.94253	GAG		0.473	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			9	40	0	0	0	0.004482	0	9	40				
MAP2K1	5604	broad.mit.edu	37	15	66782908	66782908	+	Silent	SNP	C	C	T	rs150841154	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:66782908C>T	ENST00000307102.5	+	11	1668	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	CTD-3185P2.2_ENST00000602360.1_RNA|SNAPC5_ENST00000563480.2_3'UTR|CTD-3185P2.1_ENST00000565387.1_RNA|MAP2K1_ENST00000566326.1_Silent_p.I203I|SNAPC5_ENST00000395589.2_3'UTR	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	379					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GCTCCACCATCGGCCTTAACC	0.532													C|||	7	0.00139776	0.003	0.0029	5008	,	,		20340	0.0		0.001	False		,,,				2504	0.0					ENST00000307102.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						c.(1135-1137)atC>atT		mitogen-activated protein kinase kinase 1		C	,	10,4392	17.9+/-39.9	0,10,2191	144.0	135.0	138.0		1137,	-7.3	0.8	15	dbSNP_134	138	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,utr-3	MAP2K1,SNAPC5	NM_002755.3,NM_006049.2	,	0,12,6488	TT,TC,CC		0.0233,0.2272,0.0923	,	379/394,	66782908	12,12988	2201	4299	6500	SO:0001819	synonymous_variant	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66782908C>T	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.1137C>T	15.37:g.66782908C>T						SNAPC5_ENST00000395589.2_3'UTR|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000563480.2_3'UTR|MAP2K1_ENST00000566326.1_Silent_p.I203I	p.I379I	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN			11	1668	+			379						Silent	SNP	ENST00000307102.5	37	c.1137C>T	CCDS10216.1																																																																																				0.532	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			40	82	0	0	0	0.007835	0	40	82				
PCDHB2	56133	broad.mit.edu	37	5	140476460	140476460	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:140476460T>C	ENST00000194155.4	+	1	2234	c.2086T>C	c.(2086-2088)Ttg>Ctg	p.L696L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	696					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCGTTGGCCTCGGT	0.697																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2086-2088)Ttg>Ctg									52.0	55.0	54.0					5																	140476460		2157	4188	6345	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476460T>C	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2086T>C	5.37:g.140476460T>C							p.L696L	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2234	+			696					Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.2086T>C	CCDS4244.1																																																																																				0.697	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		52	166	0	0	0	0.014410	0	52	166				
SHPRH	257218	broad.mit.edu	37	6	146245960	146245960	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:146245960T>A	ENST00000367505.2	-	17	3581	c.3317A>T	c.(3316-3318)tAc>tTc	p.Y1106F	SHPRH_ENST00000275233.7_Missense_Mutation_p.Y1106F|SHPRH_ENST00000367503.3_Missense_Mutation_p.Y1115F|SHPRH_ENST00000438092.2_Missense_Mutation_p.Y1115F			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1106					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTGCTCATGTAGTGCTCTCG	0.408																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(3343-3345)tAc>tTc		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							126.0	118.0	121.0					6																	146245960		1916	4125	6041	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146245960T>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3317A>T	6.37:g.146245960T>A	ENSP00000356475:p.Tyr1106Phe					SHPRH_ENST00000275233.7_Missense_Mutation_p.Y1106F|SHPRH_ENST00000438092.2_Missense_Mutation_p.Y1115F|SHPRH_ENST00000367505.2_Missense_Mutation_p.Y1106F	p.Y1115F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	17	3742	-		Ovarian(120;0.0365)	1106					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3344A>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	31	5.093102	0.94149	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	D;D;D;D	0.83591	-1.6;-1.74;-1.53;-1.6	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	D	0.88680	0.6502	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.998;0.99;0.996	D	0.87394	0.2365	10	0.31617	T	0.26	-18.5973	15.8509	0.78930	0.0:0.0:0.0:1.0	.	305;1106;1115	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	F	1106;1115;1115;1106	ENSP00000356475:Y1106F;ENSP00000356473:Y1115F;ENSP00000412797:Y1115F;ENSP00000275233:Y1106F	ENSP00000275233:Y1106F	Y	-	2	0	SHPRH	146287653	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	7.922000	0.87538	2.222000	0.72286	0.477000	0.44152	TAC		0.408	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		23	59	0	0	0	0.014323	0	23	59				
SPIB	6689	broad.mit.edu	37	19	50925756	50925756	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:50925756G>A	ENST00000595883.1	+	3	103	c.78G>A	c.(76-78)ctG>ctA	p.L26L	SPIB_ENST00000270632.7_Silent_p.L26L|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G161R|SPIB_ENST00000439922.2_Nonsense_Mutation_p.W7*|SPIB_ENST00000597855.1_Silent_p.L26L|SPIB_ENST00000596074.1_Silent_p.L26L	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	26	TAD1 (Acidic).				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCTATGACCTGGACAGCTGCA	0.612																																						ENST00000439922.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(19-21)tGg>tAg		Spi-B transcription factor (Spi-1/PU.1 related)							57.0	50.0	52.0					19																	50925756		2203	4300	6503	SO:0001819	synonymous_variant	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50925756G>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.78G>A	19.37:g.50925756G>A						SPIB_ENST00000596074.1_Silent_p.L26L|SPIB_ENST00000595883.1_Silent_p.L26L|SPIB_ENST00000270632.7_Silent_p.L26L|SPIB_ENST00000597855.1_Silent_p.L26L	p.W7*	NM_001243998.1	NP_001230927.1	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	3	100	+		all_neural(266;0.131)	0			TAD1 (Acidic).		A8K9C9|B4DUG6|Q15359	Nonsense_Mutation	SNP	ENST00000595883.1	37	c.20G>A	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521152	0.96416	.	.	ENSG00000142539	ENST00000439922	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	12.7358	14.7444	0.69480	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	ENSP00000391877:W7X	W	+	2	0	SPIB	55617568	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.289000	0.43523	2.409000	0.81822	0.591000	0.81541	TGG		0.612	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		16	21	0	0	0	0.006122	0	16	21				
FBXW7	55294	broad.mit.edu	37	4	153332853	153332853	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:153332853G>A	ENST00000281708.4	-	2	1332	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FBXW7_ENST00000603841.1_Missense_Mutation_p.R35C|FBXW7_ENST00000604872.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R35C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	35					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTACCACACGATTCATCTGT	0.507			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		0				NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(103-105)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							214.0	186.0	195.0					4																	153332853		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153332853G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.103C>T	4.37:g.153332853G>A	ENSP00000281708:p.Arg35Cys					FBXW7_ENST00000604872.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R35C	p.R35C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			2	1332	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	35					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.103C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375820	0.61735	.	.	ENSG00000109670	ENST00000281708	T	0.60424	0.19	5.82	5.82	0.92795	.	0.421134	0.22050	N	0.065327	T	0.64360	0.2591	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.79108	0.992;0.454	T	0.66878	-0.5812	10	0.72032	D	0.01	-5.7879	14.8919	0.70614	0.0:0.0:0.8567:0.1433	.	35;35	G0Z2K0;Q969H0	.;FBXW7_HUMAN	C	35	ENSP00000281708:R35C	ENSP00000281708:R35C	R	-	1	0	FBXW7	153552303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.262000	0.58847	2.745000	0.94114	0.650000	0.86243	CGT		0.507	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			47	90	0	0	0	0.013114	0	47	90				
AKAP2	11217	broad.mit.edu	37	9	112899295	112899295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:112899295G>C	ENST00000259318.7	+	2	985	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	AKAP2_ENST00000374525.1_Missense_Mutation_p.E349Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E491Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E491Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E491Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.E349Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E491Q	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	260										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GGAACATCTGGAGTCGCACAA	0.557																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1471-1473)Gag>Cag									37.0	40.0	39.0					9																	112899295		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112899295G>C	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.778G>C	9.37:g.112899295G>C	ENSP00000259318:p.Glu260Gln					AKAP2_ENST00000259318.7_Missense_Mutation_p.E260Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E491Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.E349Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.E349Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E491Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E491Q	p.E491Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1651	+			260					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1471G>C	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299632	0.81136	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.996;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.994;0.996;0.977;0.996;0.99;0.998;0.998;0.996	T	0.71477	-0.4581	10	0.72032	D	0.01	-33.5989	18.885	0.92372	0.0:0.0:1.0:0.0	.	260;349;343;349;350;491;491;309	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	Q	491;491;491;491;349;349;309;260	ENSP00000363654:E491Q;ENSP00000305861:E491Q;ENSP00000451476:E491Q;ENSP00000421522:E491Q;ENSP00000404782:E349Q;ENSP00000363649:E349Q;ENSP00000419268:E309Q;ENSP00000259318:E260Q	ENSP00000259318:E260Q	E	+	1	0	PALM2-AKAP2;AKAP2	111939116	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.389000	0.97243	2.691000	0.91804	0.655000	0.94253	GAG		0.557	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		11	18	0	0	0	0.013537	0	11	18				
LRRC37A4P	55073	broad.mit.edu	37	17	43625502	43625502	+	RNA	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:43625502C>G	ENST00000586411.1	-	0	1652				RP11-798G7.6_ENST00000586348.1_lincRNA																							GGTTTAACCTCTGTAGTAGGT	0.507																																						ENST00000586348.1																			0																																																			55073							g.chr17:43625502C>G																													17.37:g.43625502C>G														0	45	+									RNA	SNP	ENST00000586411.1	37																																																																																						0.507	RP11-798G7.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000452150.1			61	148	0	0	0	0.014410	0	61	148				
SALL1	6299	broad.mit.edu	37	16	51174819	51174819	+	Silent	SNP	C	C	T	rs556441449		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:51174819C>T	ENST00000251020.4	-	2	1347	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.A341A|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	438					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A438A(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTACTTTTCGCTTCAAAGG	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21436	0.0		0.0	False		,,,				2504	0.0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - coding silent(1)	p.A438A(1)	large_intestine(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1021-1023)gcG>gcA		spalt-like transcription factor 1							109.0	103.0	105.0					16																	51174819		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174819C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1314G>A	16.37:g.51174819C>T						SALL1_ENST00000251020.4_Silent_p.A438A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.A341A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1454	-		all_cancers(37;0.0322)	438					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1023G>A	CCDS10747.1																																																																																				0.488	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		33	95	0	0	0	0.013726	0	33	95				
IQCG	84223	broad.mit.edu	37	3	197670906	197670906	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:197670906A>G	ENST00000265239.6	-	4	449	c.25T>C	c.(25-27)Tca>Cca	p.S9P	IQCG_ENST00000455191.1_Missense_Mutation_p.S9P|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Missense_Mutation_p.S9P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	9						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GGAAGGTTTGAGTCTTCCAGG	0.408																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(25-27)Tca>Cca		IQ motif containing G							116.0	121.0	119.0					3																	197670906		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197670906A>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.25T>C	3.37:g.197670906A>G	ENSP00000265239:p.Ser9Pro					IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.S9P|IQCG_ENST00000453254.1_Missense_Mutation_p.S9P	p.S9P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	4	449	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		9					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.25T>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518726	0.27211	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000452735	T;T;T	0.52057	0.68;0.68;0.69	3.6	-2.18	0.07037	.	2.050120	0.02410	N	0.081573	T	0.60366	0.2263	M	0.68317	2.08	0.09310	N	1	D;D	0.71674	0.998;0.99	D;P	0.69142	0.962;0.676	T	0.50171	-0.8859	10	0.72032	D	0.01	2.8335	1.2296	0.01941	0.3425:0.3611:0.1202:0.1762	.	9;9	C9JKX8;Q9H095	.;IQCG_HUMAN	P	9	ENSP00000265239:S9P;ENSP00000407736:S9P;ENSP00000389897:S9P	ENSP00000265239:S9P	S	-	1	0	IQCG	199155303	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.084000	0.11268	-0.365000	0.08076	0.451000	0.29950	TCA		0.408	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		3	161	0	0	0	0.004672	0	3	161				
DTX1	1840	broad.mit.edu	37	12	113496163	113496163	+	Missense_Mutation	SNP	G	G	A	rs200220437		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:113496163G>A	ENST00000257600.3	+	1	669	c.166G>A	c.(166-168)Gct>Act	p.A56T		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	56	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGGAGGACGCTCGCGGTTC	0.647																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(166-168)Gct>Act		deltex homolog 1 (Drosophila)							125.0	110.0	115.0					12																	113496163		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496163G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.166G>A	12.37:g.113496163G>A	ENSP00000257600:p.Ala56Thr						p.A56T	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	669	+			56			WWE 1.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.166G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490500	0.64074	.	.	ENSG00000135144	ENST00000257600	T	0.42131	0.98	3.9	3.9	0.45041	WWE domain (2);WWE domain, subgroup (1);	0.077372	0.50627	U	0.000117	T	0.33352	0.0860	L	0.40543	1.245	0.36731	D	0.881706	P	0.51653	0.947	B	0.40702	0.338	T	0.38222	-0.9671	10	0.23891	T	0.37	-12.5667	14.8783	0.70513	0.0:0.0:1.0:0.0	.	56	Q86Y01	DTX1_HUMAN	T	56	ENSP00000257600:A56T	ENSP00000257600:A56T	A	+	1	0	DTX1	111980546	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.515000	0.45512	2.021000	0.59480	0.555000	0.69702	GCT		0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			35	89	0	0	0	0.003271	0	35	89				
ASTE1	28990	broad.mit.edu	37	3	130744130	130744130	+	Missense_Mutation	SNP	C	C	G	rs139512239		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:130744130C>G	ENST00000264992.3	-	3	462	c.21G>C	c.(19-21)atG>atC	p.M7I	NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000511262.1_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.M7I|NEK11_ENST00000429253.2_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	7					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CCACAAAACTCATTAGTCCTC	0.378																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(19-21)atG>atC		asteroid homolog 1 (Drosophila)							88.0	91.0	90.0					3																	130744130		2202	4289	6491	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130744130C>G	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.21G>C	3.37:g.130744130C>G	ENSP00000264992:p.Met7Ile					ASTE1_ENST00000514044.1_Missense_Mutation_p.M7I	p.M7I	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	462	-			7					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.21G>C	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296642	0.60086	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270;ENST00000505545;ENST00000504725;ENST00000509060	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.44	4.56	0.56223	XPG N-terminal (1);	0.084420	0.85682	D	0.000000	T	0.41903	0.1179	L	0.28274	0.84	0.34207	D	0.673819	P;P	0.44521	0.837;0.837	P;P	0.45195	0.473;0.473	T	0.51741	-0.8667	10	0.28530	T	0.3	-31.7547	10.833	0.46671	0.0:0.7961:0.1302:0.0737	.	7;7	D6RG30;Q2TB18	.;ASTE1_HUMAN	I	7	ENSP00000426421:M7I;ENSP00000264992:M7I;ENSP00000425683:M7I;ENSP00000422851:M7I	ENSP00000264992:M7I	M	-	3	0	ASTE1	132226820	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.703000	0.25646	2.551000	0.86045	0.650000	0.86243	ATG		0.378	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		22	57	0	0	0	0.003330	0	22	57				
DGKQ	1609	broad.mit.edu	37	4	959304	959304	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:959304G>A	ENST00000273814.3	-	14	1666	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	531					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTGACTCACGGACACCACGG	0.667																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1591-1593)tcC>tcT		diacylglycerol kinase, theta 110kDa							62.0	52.0	55.0					4																	959304		2199	4299	6498	SO:0001819	synonymous_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:959304G>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1593C>T	4.37:g.959304G>A						DGKQ_ENST00000502309.1_5'UTR	p.S531S	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		14	1666	-			531					Q6P3W4	Silent	SNP	ENST00000273814.3	37	c.1593C>T	CCDS3342.1																																																																																				0.667	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			5	18	0	0	0	0.000602	0	5	18				
BCLAF1	9774	broad.mit.edu	37	6	136582563	136582563	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:136582563C>T	ENST00000531224.1	-	12	2849	c.2597G>A	c.(2596-2598)cGt>cAt	p.R866H	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R817H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R84H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R693H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R815H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R815H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R864H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	866					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAAGTACCACGACCTCTTCC	0.408																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2596-2598)cGt>cAt		BCL2-associated transcription factor 1							209.0	209.0	209.0					6																	136582563		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582563C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2597G>A	6.37:g.136582563C>T	ENSP00000435210:p.Arg866His					BCLAF1_ENST00000527759.1_Missense_Mutation_p.R864H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R84H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R693H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R817H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R815H|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R815H	p.R866H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2849	-	Colorectal(23;0.24)		866					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2597G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484459	0.84854	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	T;T;T;T;T;T;T	0.58940	2.06;1.77;1.77;1.82;2.06;0.3;1.77	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	T	0.68201	0.2975	L	0.49126	1.545	0.58432	D	0.999992	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.991;0.999;0.991;0.991;0.993	T	0.70730	-0.4792	10	0.87932	D	0	-4.1232	19.3961	0.94607	0.0:1.0:0.0:0.0	.	864;145;815;866;693	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	H	866;815;817;693;864;84;815	ENSP00000435210:R866H;ENSP00000229446:R815H;ENSP00000435441:R817H;ENSP00000436501:R693H;ENSP00000434826:R864H;ENSP00000031135:R84H;ENSP00000376159:R815H	ENSP00000031135:R84H	R	-	2	0	BCLAF1	136624256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.412000	0.73303	2.581000	0.87130	0.655000	0.94253	CGT		0.408	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		25	227	0	0	0	0.003330	0	25	227				
KIF1B	23095	broad.mit.edu	37	1	10384836	10384836	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:10384836G>A	ENST00000377086.1	+	26	2760	c.2558G>A	c.(2557-2559)cGa>cAa	p.R853Q	KIF1B_ENST00000263934.6_Missense_Mutation_p.R807Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.R853Q			O60333	KIF1B_HUMAN	kinesin family member 1B	853					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATTTGATGCGAGAGATGTAT	0.463																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2557-2559)cGa>cAa		kinesin family member 1B							157.0	152.0	154.0					1																	10384836		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10384836G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2558G>A	1.37:g.10384836G>A	ENSP00000366290:p.Arg853Gln					KIF1B_ENST00000377081.1_Missense_Mutation_p.R853Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.R807Q	p.R853Q			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	26	2760	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	853					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2558G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.936636	0.97122	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	D;D;D	0.85339	-1.97;-1.97;-1.97	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.996	D;D;D;D;D;P	0.91635	0.999;0.992;0.99;0.997;0.99;0.748	D	0.92143	0.5722	10	0.72032	D	0.01	.	19.4313	0.94768	0.0:0.0:1.0:0.0	.	839;813;853;827;853;807	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	Q	853;807;853;853	ENSP00000263934:R807Q;ENSP00000366290:R853Q;ENSP00000366284:R853Q	ENSP00000263934:R807Q	R	+	2	0	KIF1B	10307423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.012000	0.88631	2.688000	0.91661	0.650000	0.86243	CGA		0.463	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			20	53	0	0	0	0.012319	0	20	53				
CASP8	841	broad.mit.edu	37	2	202149644	202149644	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:202149644A>T	ENST00000432109.2	+	9	1097	c.908A>T	c.(907-909)gAc>gTc	p.D303V	CASP8_ENST00000323492.7_Missense_Mutation_p.D288V|CASP8_ENST00000264274.9_Missense_Mutation_p.D219V|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.D320V|CASP8_ENST00000358485.4_Missense_Mutation_p.D362V	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	303					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAACTCATGGACCACAGTAAC	0.473										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1084-1086)gAc>gTc		caspase 8, apoptosis-related cysteine peptidase							168.0	145.0	153.0					2																	202149644		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149644A>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.908A>T	2.37:g.202149644A>T	ENSP00000412523:p.Asp303Val	HNSCC(4;0.00038)				CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Missense_Mutation_p.D303V|CASP8_ENST00000323492.7_Missense_Mutation_p.D288V|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.D219V|CASP8_ENST00000264275.5_Missense_Mutation_p.D320V	p.D362V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1281	+			303					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1085A>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685684	0.88639	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.68	4.48	0.54585	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.253869	0.45606	D	0.000360	T	0.82153	0.4975	M	0.93106	3.38	0.80722	D	1	D;P;P;D;P	0.76494	0.999;0.748;0.915;0.968;0.748	D;P;P;P;P	0.71414	0.973;0.447;0.804;0.859;0.447	D	0.86486	0.1794	10	0.87932	D	0	.	12.9753	0.58534	0.8655:0.1345:0.0:0.0	.	219;362;303;288;320	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	V	288;219;303;320;362;288;82	ENSP00000376091:D288V;ENSP00000264274:D219V;ENSP00000412523:D303V;ENSP00000264275:D320V;ENSP00000351273:D362V;ENSP00000325722:D288V;ENSP00000394434:D82V	ENSP00000264274:D219V	D	+	2	0	CASP8	201857889	1.000000	0.71417	0.930000	0.37139	0.494000	0.33585	4.822000	0.62686	2.170000	0.68504	0.459000	0.35465	GAC		0.473	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		81	83	0	0	0	0.014410	0	81	83				
CYP2W1	54905	broad.mit.edu	37	7	1026752	1026752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:1026752C>T	ENST00000308919.7	+	6	842	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	CYP2W1_ENST00000340150.6_Missense_Mutation_p.P221S	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	277					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGGATGACCCCGAGGGCCT	0.692																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(661-663)Ccc>Tcc		cytochrome P450, family 2, subfamily W, polypeptide 1							15.0	16.0	16.0					7																	1026752		2180	4277	6457	SO:0001583	missense	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1026752C>T	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.829C>T	7.37:g.1026752C>T	ENSP00000310149:p.Pro277Ser					CYP2W1_ENST00000308919.7_Missense_Mutation_p.P277S	p.P221S			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	6	683	+		Ovarian(82;0.0112)	277						Missense_Mutation	SNP	ENST00000308919.7	37	c.661C>T	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338892	0.24253	.	.	ENSG00000073067	ENST00000308919;ENST00000340150;ENST00000415893	T;T;T	0.68181	-0.31;-0.31;-0.31	4.32	2.31	0.28768	.	1.006700	0.07981	N	0.985657	T	0.50497	0.1619	L	0.31207	0.915	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.17098	0.017;0.017	T	0.35425	-0.9789	10	0.21014	T	0.42	.	5.1438	0.14973	0.3739:0.5179:0.0:0.1082	.	221;277	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	S	277;221;51	ENSP00000310149:P277S;ENSP00000344178:P221S;ENSP00000392581:P51S	ENSP00000310149:P277S	P	+	1	0	CYP2W1	993278	0.002000	0.14202	0.412000	0.26496	0.147000	0.21601	1.168000	0.31859	1.132000	0.42129	0.561000	0.74099	CCC		0.692	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		5	7	0	0	0	0.001168	0	5	7				
TPSD1	23430	broad.mit.edu	37	16	1306640	1306640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:1306640C>T	ENST00000211076.3	+	2	354	c.206C>T	c.(205-207)tCc>tTc	p.S69F	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.S62F	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	69	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCGGGGGCTCCCTCATCCAC	0.687																																						ENST00000211076.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(205-207)tCc>tTc		tryptase delta 1							55.0	66.0	62.0					16																	1306640		2199	4300	6499	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306640C>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.206C>T	16.37:g.1306640C>T	ENSP00000211076:p.Ser69Phe					TPSD1_ENST00000397534.2_Missense_Mutation_p.S62F	p.S69F	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN			2	354	+		Hepatocellular(780;0.00369)	69			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.206C>T	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	14.55	2.567589	0.45694	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.84070	-1.8;-1.8	3.0	3.0	0.34707	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000232	D	0.90789	0.7108	M	0.87328	2.875	0.49213	D	0.99976	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.91740	0.5403	10	0.66056	D	0.02	.	11.7565	0.51878	0.0:1.0:0.0:0.0	.	62;69	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	F	62;69	ENSP00000380668:S62F;ENSP00000211076:S69F	ENSP00000211076:S69F	S	+	2	0	TPSD1	1246641	0.295000	0.24389	0.996000	0.52242	0.142000	0.21351	4.198000	0.58419	1.642000	0.50584	0.185000	0.17295	TCC		0.687	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			22	57	0	0	0	0.002780	0	22	57				
FARP1	10160	broad.mit.edu	37	13	99092944	99092944	+	Missense_Mutation	SNP	G	G	A	rs145597966	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:99092944G>A	ENST00000319562.6	+	24	2915	c.2650G>A	c.(2650-2652)Gcg>Acg	p.A884T	FARP1_ENST00000376586.2_Missense_Mutation_p.A915T|FARP1_ENST00000595437.1_Missense_Mutation_p.A915T	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	884					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAAGCCACCGCGGCTGACCA	0.627													G|||	7	0.00139776	0.0053	0.0	5008	,	,		19065	0.0		0.0	False		,,,				2504	0.0					ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(2743-2745)Gcg>Acg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)		G	THR/ALA	7,4399	12.9+/-30.5	0,7,2196	46.0	46.0	46.0		2650	-1.1	0.0	13	dbSNP_134	46	0,8600		0,0,4300	yes	missense	FARP1	NM_005766.2	58	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign	884/1046	99092944	7,12999	2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99092944G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2650G>A	13.37:g.99092944G>A	ENSP00000322926:p.Ala884Thr					FARP1_ENST00000595437.1_Missense_Mutation_p.A915T|FARP1_ENST00000319562.6_Missense_Mutation_p.A884T	p.A915T			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		25	3079	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		884					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2743G>A	CCDS9487.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	6.594	0.478021	0.12521	0.001589	0.0	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.11821	2.74;2.74	4.68	-1.09	0.09904	.	1.399260	0.04204	N	0.330604	T	0.06462	0.0166	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32534	-0.9903	10	0.14656	T	0.56	.	2.2114	0.03949	0.4204:0.1199:0.3367:0.123	.	884;915	Q9Y4F1;C9JME2	FARP1_HUMAN;.	T	915;884	ENSP00000365771:A915T;ENSP00000322926:A884T	ENSP00000322926:A884T	A	+	1	0	FARP1	97890945	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.117000	0.10708	-0.396000	0.07703	-1.707000	0.00718	GCG		0.627	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		7	64	0	0	0	0.001984	0	7	64				
CEBPG	1054	broad.mit.edu	37	19	33870422	33870422	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:33870422A>T	ENST00000284000.4	+	2	939	c.277A>T	c.(277-279)Aga>Tga	p.R93*	CEBPG_ENST00000585933.2_Nonsense_Mutation_p.R93*	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	93	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				B cell differentiation (GO:0030183)|enucleate erythrocyte differentiation (GO:0043353)|immune response (GO:0006955)|liver development (GO:0001889)|mRNA metabolic process (GO:0016071)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA repair (GO:0045739)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CACACTGCAGAGAGTCAATCA	0.438																																						ENST00000284000.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7						c.(277-279)Aga>Tga		CCAAT/enhancer binding protein (C/EBP), gamma							102.0	90.0	94.0					19																	33870422		2203	4300	6503	SO:0001587	stop_gained	1054				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:33870422A>T	U20240	CCDS12432.1	19q13.2	2013-01-10				ENSG00000153879		"""basic leucine zipper proteins"""	1837	protein-coding gene	gene with protein product		138972				1884998	Standard	NM_001806		Approved	GPE1BP, IG/EBP-1	uc021usd.1	P53567		ENST00000284000.4:c.277A>T	19.37:g.33870422A>T	ENSP00000284000:p.Arg93*						p.R93*	NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN			2	939	+	Esophageal squamous(110;0.137)		93					B2R946|Q5U052	Nonsense_Mutation	SNP	ENST00000284000.4	37	c.277A>T	CCDS12432.1	.	.	.	.	.	.	.	.	.	.	A	37	6.176761	0.97348	.	.	ENSG00000153879	ENST00000284000	.	.	.	5.87	2.37	0.29283	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.0188	12.9724	0.58520	0.6163:0.3837:0.0:0.0	.	.	.	.	X	93	.	ENSP00000284000:R93X	R	+	1	2	CEBPG	38562262	1.000000	0.71417	0.987000	0.45799	0.826000	0.46750	4.307000	0.59123	0.517000	0.28361	0.533000	0.62120	AGA		0.438	CEBPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451427.2	NM_001806		9	12	0	0	0	0.006214	0	9	12				
CPA6	57094	broad.mit.edu	37	8	68334861	68334861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:68334861C>T	ENST00000297770.4	-	11	1407	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CPA6_ENST00000297769.4_Missense_Mutation_p.E154K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	398						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E398K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCACGTAGTTCGAAAGCAAAT	0.383																																						ENST00000297770.4																			1	Substitution - Missense(1)	p.E398K(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(1192-1194)Gaa>Aaa		carboxypeptidase A6							130.0	130.0	130.0					8																	68334861		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68334861C>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.1192G>A	8.37:g.68334861C>T	ENSP00000297770:p.Glu398Lys					CPA6_ENST00000297769.4_Missense_Mutation_p.E154K	p.E398K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		11	1407	-			398					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.1192G>A	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151144	0.78001	.	.	ENSG00000165078	ENST00000297769;ENST00000297770	T;T	0.59364	0.27;0.27	5.86	4.99	0.66335	Peptidase M14, carboxypeptidase A (2);	0.049117	0.85682	N	0.000000	T	0.75539	0.3863	M	0.75150	2.29	0.33097	D	0.538687	P;D	0.89917	0.842;1.0	B;D	0.97110	0.214;1.0	D	0.84068	0.0378	10	0.72032	D	0.01	.	14.9884	0.71365	0.0:0.9318:0.0:0.0682	.	154;398	Q8N4T0-3;Q8N4T0	.;CBPA6_HUMAN	K	154;398	ENSP00000297769:E154K;ENSP00000297770:E398K	ENSP00000297769:E154K	E	-	1	0	CPA6	68497415	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.464000	0.80887	1.486000	0.48398	0.591000	0.81541	GAA		0.383	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		38	94	0	0	0	0.006230	0	38	94				
WSB1	26118	broad.mit.edu	37	17	25628934	25628934	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:25628934G>T	ENST00000262394.2	+	2	477	c.161G>T	c.(160-162)gGa>gTa	p.G54V	WSB1_ENST00000581185.1_Missense_Mutation_p.G54V|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.G23V|WSB1_ENST00000578312.1_3'UTR	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	54					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGGTCACAAGGACATCGCACA	0.413																																						ENST00000262394.2																			0				lung(3)	3						c.(160-162)gGa>gTa		WD repeat and SOCS box containing 1							343.0	310.0	321.0					17																	25628934		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25628934G>T	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.161G>T	17.37:g.25628934G>T	ENSP00000262394:p.Gly54Val					WSB1_ENST00000581185.1_Missense_Mutation_p.G54V|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.G23V|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000579733.1_Intron	p.G54V	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	477	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		54					Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.161G>T	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242600	0.22796	.	.	ENSG00000109046	ENST00000262394;ENST00000427287	T;T	0.59906	0.23;0.23	5.81	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.076548	0.53938	D	0.000044	T	0.69708	0.3141	L	0.54323	1.7	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.071	D;D;B	0.91635	0.998;0.999;0.039	T	0.65833	-0.6072	10	0.19147	T	0.46	-12.1882	15.3579	0.74443	0.0:0.0:0.8594:0.1405	.	23;54;54	B4DGB8;B4DTL1;Q9Y6I7	.;.;WSB1_HUMAN	V	54;23	ENSP00000262394:G54V;ENSP00000416112:G23V	ENSP00000262394:G54V	G	+	2	0	WSB1	22653061	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	9.240000	0.95396	1.437000	0.47472	-0.182000	0.12963	GGA		0.413	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		35	201	1	0	3.76114e-14	0.004289	4.22978e-14	35	201				
EPHA5	2044	broad.mit.edu	37	4	66356413	66356413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:66356413G>C	ENST00000273854.3	-	5	1684	c.1084C>G	c.(1084-1086)Cgg>Ggg	p.R362G	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.R362G|EPHA5_ENST00000354839.4_Missense_Mutation_p.R362G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	362	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATGGCATTCCGAGGAGCAGAG	0.393										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1084-1086)Cgg>Ggg		EPH receptor A5							42.0	42.0	42.0					4																	66356413		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356413G>C	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1084C>G	4.37:g.66356413G>C	ENSP00000273854:p.Arg362Gly	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.R362G|EPHA5_ENST00000354839.4_Missense_Mutation_p.R362G|EPHA5_ENST00000432638.2_Intron	p.R362G	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1684	-			362			Fibronectin type-III 1.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1084C>G	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361637	0.61403	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.57436	0.4;0.4;0.4	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000052	T	0.77356	0.4118	M	0.87971	2.92	0.80722	D	1	D;B;D;B	0.65815	0.995;0.066;0.994;0.045	D;B;D;B	0.67725	0.953;0.143;0.922;0.013	T	0.79722	-0.1684	10	0.66056	D	0.02	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	362;362;362;362	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	G	362	ENSP00000273854:R362G;ENSP00000346899:R362G;ENSP00000427638:R362G	ENSP00000273854:R362G	R	-	1	2	EPHA5	66039008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.912000	0.87465	2.777000	0.95525	0.591000	0.81541	CGG		0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		13	37	0	0	0	0.001855	0	13	37				
ZNF615	284370	broad.mit.edu	37	19	52497522	52497522	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:52497522G>A	ENST00000602063.1	-	6	1156	c.807C>T	c.(805-807)ttC>ttT	p.F269F	ZNF615_ENST00000598071.1_Silent_p.F280F|ZNF615_ENST00000391795.3_Silent_p.F274F|ZNF615_ENST00000376716.5_Silent_p.F269F|ZNF615_ENST00000594083.1_Silent_p.F280F			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	269					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATTTCTTGAGGAAGGTTTTGT	0.413																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(805-807)ttC>ttT		zinc finger protein 615							168.0	153.0	158.0					19																	52497522		2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497522G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.807C>T	19.37:g.52497522G>A						ZNF615_ENST00000594083.1_Silent_p.F280F|ZNF615_ENST00000598071.1_Silent_p.F280F|ZNF615_ENST00000376716.5_Silent_p.F269F|ZNF615_ENST00000391795.3_Silent_p.F274F	p.F269F			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1156	-		all_neural(266;0.117)	269					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.807C>T	CCDS12846.1																																																																																				0.413	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		24	220	0	0	0	0.014323	0	24	220				
OBSCN	84033	broad.mit.edu	37	1	228495827	228495827	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:228495827T>C	ENST00000422127.1	+	47	12526	c.12482T>C	c.(12481-12483)aTt>aCt	p.I4161T	OBSCN_ENST00000366709.4_Missense_Mutation_p.I1280T|OBSCN_ENST00000570156.2_Missense_Mutation_p.I5118T|OBSCN_ENST00000284548.11_Missense_Mutation_p.I4161T|OBSCN_ENST00000366707.4_Missense_Mutation_p.I1795T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4161					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGACCATTGTACGGGGG	0.612																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15352-15354)aTt>aCt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							79.0	89.0	85.0					1																	228495827		2111	4226	6337	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495827T>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12482T>C	1.37:g.228495827T>C	ENSP00000409493:p.Ile4161Thr					OBSCN_ENST00000366709.4_Missense_Mutation_p.I1280T|OBSCN_ENST00000366707.4_Missense_Mutation_p.I1795T|OBSCN_ENST00000284548.11_Missense_Mutation_p.I4161T|OBSCN_ENST00000422127.1_Missense_Mutation_p.I4161T	p.I5118T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			58	15427	+		Prostate(94;0.0405)	4161					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15353T>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281214	0.80692	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	6.04	6.04	0.98038	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.87059	0.6083	M	0.92604	3.325	0.46499	D	0.999073	D;D	0.89917	0.997;1.0	D;D	0.74023	0.932;0.982	D	0.87271	0.2286	10	0.29301	T	0.29	.	16.25	0.82478	0.0:0.0:0.0:1.0	.	4161;4161	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	4161;4161;1795;1280	ENSP00000284548:I4161T;ENSP00000409493:I4161T;ENSP00000355668:I1795T;ENSP00000355670:I1280T	ENSP00000284548:I4161T	I	+	2	0	OBSCN	226562450	0.998000	0.40836	0.940000	0.37924	0.536000	0.34869	2.952000	0.49097	2.317000	0.78254	0.460000	0.39030	ATT		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	68	0	0	0	0.002450	0	14	68				
PHIP	55023	broad.mit.edu	37	6	79655871	79655871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:79655871G>C	ENST00000275034.4	-	38	4644	c.4477C>G	c.(4477-4479)Cag>Gag	p.Q1493E	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1493					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCGTTTATCTGAGCAGCATTG	0.433																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4477-4479)Cag>Gag		pleckstrin homology domain interacting protein							197.0	172.0	181.0					6																	79655871		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655871G>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4477C>G	6.37:g.79655871G>C	ENSP00000275034:p.Gln1493Glu					PHIP_ENST00000479165.1_5'UTR	p.Q1493E	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4644	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1493					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4477C>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899908	0.33535	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.38887	1.11	5.96	5.96	0.96718	.	0.078877	0.53938	D	0.000043	T	0.22399	0.0540	L	0.27053	0.805	0.48087	D	0.999581	P;P	0.48764	0.915;0.915	B;B	0.40940	0.344;0.344	T	0.01386	-1.1368	9	.	.	.	-10.1262	19.4101	0.94667	0.0:0.0:1.0:0.0	.	1493;1493	A7J992;Q8WWQ0	.;PHIP_HUMAN	E	1493;219	ENSP00000275034:Q1493E	.	Q	-	1	0	PHIP	79712590	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.757000	0.74924	2.832000	0.97577	0.655000	0.94253	CAG		0.433	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	89	0	0	0	0.001984	0	7	89				
PLCE1	51196	broad.mit.edu	37	10	95791784	95791784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791784G>C	ENST00000371380.3	+	1	1216	c.981G>C	c.(979-981)agG>agC	p.R327S	PLCE1_ENST00000260766.3_Missense_Mutation_p.R327S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	327					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTTAGTCAGGAGATTCTGTA	0.403																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(979-981)agG>agC		phospholipase C, epsilon 1							99.0	99.0	99.0					10																	95791784		1845	4095	5940	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791784G>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.981G>C	10.37:g.95791784G>C	ENSP00000360431:p.Arg327Ser					PLCE1_ENST00000371380.2_Missense_Mutation_p.R327S	p.R327S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	1615	+		Colorectal(252;0.0458)	327					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.981G>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227421	0.58668	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.71698	-0.59;-0.59	5.14	-0.8	0.10897	Ras guanine nucleotide exchange factor, domain (1);	0.188267	0.30723	N	0.009001	T	0.71195	0.3311	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.69450	-0.5142	10	0.87932	D	0	.	11.5623	0.50785	0.8408:0.0:0.1592:0.0	.	327;327	B7ZM61;Q9P212	.;PLCE1_HUMAN	S	327	ENSP00000260766:R327S;ENSP00000360431:R327S	ENSP00000260766:R327S	R	+	3	2	PLCE1	95781774	0.972000	0.33761	0.985000	0.45067	0.983000	0.72400	0.072000	0.14617	-0.387000	0.07809	-0.137000	0.14449	AGG		0.403	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		13	60	0	0	0	0.001855	0	13	60				
MXRA5	25878	broad.mit.edu	37	X	3241681	3241681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:3241681C>T	ENST00000217939.6	-	5	2199	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(2044-2046)cGc>cAc		matrix-remodelling associated 5							78.0	73.0	74.0					X																	3241681		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241681C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2045G>A	X.37:g.3241681C>T	ENSP00000217939:p.Arg682His						p.R682H	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2199	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	682					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2045G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	4.025	0.002194	0.07819	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65549	-0.16	3.48	0.632	0.17705	.	0.561089	0.14863	N	0.293997	T	0.34919	0.0914	N	0.08118	0	0.20975	N	0.999819	B	0.19331	0.035	B	0.10450	0.005	T	0.16188	-1.0411	10	0.24483	T	0.36	.	6.6189	0.22792	0.0:0.5558:0.0:0.4442	.	682	Q9NR99	MXRA5_HUMAN	H	682	ENSP00000217939:R682H	ENSP00000217939:R682H	R	-	2	0	MXRA5	3251681	0.875000	0.30112	0.004000	0.12327	0.007000	0.05969	-0.070000	0.11523	-0.013000	0.14199	0.529000	0.55759	CGC		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		27	71	0	0	0	0.007291	0	27	71				
NKAIN4	128414	broad.mit.edu	37	20	61873937	61873937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:61873937G>A	ENST00000370316.3	-	6	660	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.H129Y|NKAIN4_ENST00000370313.1_Intron	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TCATTGACATGGTAGAGAGGA	0.453																																						ENST00000370316.3																			0				endometrium(2)|lung(1)|ovary(1)	4						c.(571-573)Cat>Tat		Na+/K+ transporting ATPase interacting 4							208.0	210.0	209.0					20																	61873937		2203	4300	6503	SO:0001583	missense	128414					integral to membrane|plasma membrane		g.chr20:61873937G>A	BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"""Na+/K+ transporting ATPase interacting"""	16191	protein-coding gene	gene with protein product		612873	"""chromosome 20 open reading frame 58"""	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.571C>T	20.37:g.61873937G>A	ENSP00000359340:p.His191Tyr					NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.H129Y|NKAIN4_ENST00000370313.1_Intron	p.H191Y	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN			6	660	-	all_cancers(38;2.72e-09)		191					Q4VXQ6|Q9BQU8|Q9BQU9	Missense_Mutation	SNP	ENST00000370316.3	37	c.571C>T	CCDS13514.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607488	0.66558	.	.	ENSG00000101198	ENST00000370316;ENST00000370307	T;T	0.15256	2.44;2.45	4.54	3.57	0.40892	.	0.159681	0.40554	U	0.001062	T	0.41119	0.1145	M	0.75447	2.3	0.37802	D	0.927726	D	0.76494	0.999	D	0.83275	0.996	T	0.49428	-0.8941	10	0.72032	D	0.01	-14.4004	13.3637	0.60671	0.0:0.0:0.8406:0.1594	.	191	Q8IVV8	NKAI4_HUMAN	Y	191;129	ENSP00000359340:H191Y;ENSP00000359330:H129Y	ENSP00000359330:H129Y	H	-	1	0	NKAIN4	61344382	1.000000	0.71417	0.772000	0.31596	0.894000	0.52154	5.299000	0.65716	0.855000	0.35359	0.491000	0.48974	CAT		0.453	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080117.3	NM_152864		65	198	0	0	0	0.014410	0	65	198				
CYP4F24P	388514	broad.mit.edu	37	19	15885127	15885127	+	IGR	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:15885127C>T								LLNLR-249E10.1 (3489 upstream) : OR10H5 (19633 downstream)																							ATGGAGAGATCATCCTTGGGC	0.577																																						ENST00000587443.2																			0																																																	SO:0001628	intergenic_variant	388514							g.chr19:15885127C>T																													19.37:g.15885127C>T								NR_033864.1						0	295	-									RNA	SNP		37			.	.	.	.	.	.	.	.	.	.	.	2.716	-0.267708	0.05754	.	.	ENSG00000225607	ENST00000412610	.	.	.	1.76	-3.51	0.04696	.	.	.	.	.	T	0.20780	0.0500	.	.	.	.	.	.	B	0.06786	0.001	B	0.12837	0.008	T	0.23048	-1.0199	6	0.20519	T	0.43	.	4.3921	0.11346	0.1837:0.5375:0.0:0.2787	.	10	B4DNA9	.	N	10	.	ENSP00000389636:D10N	D	-	1	0	AC011537.1	15746127	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.570000	0.02140	-1.291000	0.02368	-0.369000	0.07265	GAT	0	0.577									19	60	0	0	0	0.008871	0	19	60				
PYGM	5837	broad.mit.edu	37	11	64525340	64525340	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:64525340C>G	ENST00000164139.3	-	5	969	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	PYGM_ENST00000377432.3_Missense_Mutation_p.E103Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	191					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGGCCTTCTCCCAGGGGTTG	0.607																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(571-573)Gag>Cag		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						72.0	63.0	66.0					11																	64525340		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64525340C>G		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.571G>C	11.37:g.64525340C>G	ENSP00000164139:p.Glu191Gln					PYGM_ENST00000377432.3_Missense_Mutation_p.E103Q	p.E191Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			5	969	-			191					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.571G>C	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385695	0.95967	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94376	-3.41;-3.41	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000011	D	0.97228	0.9094	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.97718	1.0195	10	0.87932	D	0	-39.374	17.3277	0.87253	0.0:1.0:0.0:0.0	.	103;191	A6NDY6;P11217	.;PYGM_HUMAN	Q	103;191;172	ENSP00000366650:E103Q;ENSP00000164139:E191Q	ENSP00000164139:E191Q	E	-	1	0	PYGM	64281916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.700000	0.92200	0.563000	0.77884	GAG		0.607	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		18	25	0	0	0	0.010504	0	18	25				
ME2	4200	broad.mit.edu	37	18	48447048	48447048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:48447048C>G	ENST00000321341.5	+	9	1134	c.862C>G	c.(862-864)Cta>Gta	p.L288V	ME2_ENST00000382927.3_Missense_Mutation_p.L288V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	288					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TGCAGTAGCTCTAGCAGGTCT	0.348																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(862-864)Cta>Gta		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						61.0	64.0	63.0					18																	48447048		2203	4296	6499	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48447048C>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.862C>G	18.37:g.48447048C>G	ENSP00000321070:p.Leu288Val					ME2_ENST00000382927.3_Missense_Mutation_p.L288V	p.L288V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	9	1134	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	288					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.862C>G	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133958	0.09032	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.34472	1.36;1.36	5.73	1.9	0.25705	Malic enzyme, conserved site (1);Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.33137	0.985	0.48288	D	0.999626	B;B	0.14012	0.003;0.009	B;B	0.25405	0.06;0.03	T	0.16897	-1.0387	10	0.02654	T	1	-15.6398	9.7916	0.40708	0.0:0.6438:0.0:0.3562	.	288;288	Q9BWL6;P23368	.;MAOM_HUMAN	V	288	ENSP00000321070:L288V;ENSP00000372384:L288V	ENSP00000321070:L288V	L	+	1	2	ME2	46701046	0.003000	0.15002	0.791000	0.31998	0.904000	0.53231	0.072000	0.14617	0.061000	0.16311	0.637000	0.83480	CTA		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		40	50	0	0	0	0.009718	0	40	50				
TRMU	55687	broad.mit.edu	37	22	46752850	46752850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:46752850G>A	ENST00000290846.4	+	11	1553	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	TRMU_ENST00000381019.3_Silent_p.*377*	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	405					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GATGGCCACTGAGAGCCCCAG	0.632																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(1213-1215)Gag>Aag		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							55.0	57.0	56.0					22																	46752850		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46752850G>A	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.1213G>A	22.37:g.46752850G>A	ENSP00000290846:p.Glu405Lys					TRMU_ENST00000381019.3_Silent_p.*377*	p.E405K	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	11	1553	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	405					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.1213G>A	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712323	0.30322	.	.	ENSG00000100416	ENST00000290846	T	0.70749	-0.51	4.32	1.01	0.19927	.	0.713969	0.12987	N	0.422772	T	0.44307	0.1287	N	0.08118	0	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.23368	-1.0190	10	0.23302	T	0.38	-23.7749	5.8804	0.18852	0.4253:0.0:0.5747:0.0	.	251;405	O75648-4;O75648	.;MTU1_HUMAN	K	405	ENSP00000290846:E405K	ENSP00000290846:E405K	E	+	1	0	TRMU	45131514	0.018000	0.18449	0.007000	0.13788	0.001000	0.01503	0.514000	0.22786	0.394000	0.25230	-0.339000	0.08088	GAG		0.632	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		15	39	0	0	0	0.003163	0	15	39				
DCAF15	90379	broad.mit.edu	37	19	14070284	14070284	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:14070284G>A	ENST00000254337.6	+	7	1233	c.1212G>A	c.(1210-1212)ccG>ccA	p.P404P		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	404					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GGACGGAGCCGGAGGATGGTG	0.687																																						ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1210-1212)ccG>ccA		DDB1 and CUL4 associated factor 15							27.0	34.0	31.0					19																	14070284		2197	4285	6482	SO:0001819	synonymous_variant	90379							g.chr19:14070284G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1212G>A	19.37:g.14070284G>A							p.P404P	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			7	1233	+			404					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.1212G>A	CCDS32926.1																																																																																				0.687	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		25	49	0	0	0	0.002780	0	25	49				
PITPNM1	9600	broad.mit.edu	37	11	67267280	67267280	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67267280T>C	ENST00000534749.1	-	7	1273	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E362G|PITPNM1_ENST00000356404.3_Missense_Mutation_p.E362G			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	362					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGAAGACCTCCTCACTGTC	0.592																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(1084-1086)gAg>gGg		phosphatidylinositol transfer protein, membrane-associated 1							104.0	99.0	101.0					11																	67267280		2196	4286	6482	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67267280T>C	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1085A>G	11.37:g.67267280T>C	ENSP00000437286:p.Glu362Gly					PITPNM1_ENST00000436757.2_Missense_Mutation_p.E362G|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E362G	p.E362G	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			8	1310	-			362					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.1085A>G	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	t	16.34	3.096695	0.56075	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.48836	0.8;0.8;0.8	3.8	3.8	0.43715	.	0.000000	0.56097	D	0.000037	T	0.55673	0.1935	L	0.49126	1.545	0.47819	D	0.999529	P;P	0.48640	0.913;0.859	P;P	0.57548	0.823;0.67	T	0.55016	-0.8206	10	0.41790	T	0.15	-29.5997	12.4015	0.55416	0.0:0.0:0.0:1.0	.	362;362	O00562-2;O00562	.;PITM1_HUMAN	G	362	ENSP00000437286:E362G;ENSP00000398787:E362G;ENSP00000348772:E362G	ENSP00000348772:E362G	E	-	2	0	PITPNM1	67023856	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.681000	0.84073	1.960000	0.56953	0.524000	0.50904	GAG		0.592	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		10	121	0	0	0	0.008291	0	10	121				
ZNF513	130557	broad.mit.edu	37	2	27601470	27601470	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:27601470C>T	ENST00000323703.6	-	3	861	c.663G>A	c.(661-663)ctG>ctA	p.L221L	ZNF513_ENST00000407879.1_Silent_p.L159L|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	221					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCGCCTCAGGTTGCCCA	0.682																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(661-663)ctG>ctA		zinc finger protein 513							91.0	79.0	83.0					2																	27601470		2203	4300	6503	SO:0001819	synonymous_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27601470C>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.663G>A	2.37:g.27601470C>T						ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Silent_p.L159L	p.L221L	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			3	861	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		221					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	c.663G>A	CCDS1751.1																																																																																				0.682	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		15	46	0	0	0	0.004007	0	15	46				
TAS2R16	50833	broad.mit.edu	37	7	122635216	122635216	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:122635216T>C	ENST00000249284.2	-	1	538	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	158					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGTAGATGCTCCATGGTGAG	0.383																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(472-474)gAg>gGg		taste receptor, type 2, member 16							163.0	152.0	156.0					7																	122635216		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635216T>C	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.473A>G	7.37:g.122635216T>C	ENSP00000249284:p.Glu158Gly						p.E158G	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	538	-			158					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.473A>G	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	T	5.896	0.349392	0.11182	.	.	ENSG00000128519	ENST00000249284	T	0.37058	1.22	4.56	-9.11	0.00711	.	2.716310	0.01647	N	0.024383	T	0.18635	0.0447	N	0.20685	0.6	0.09310	N	1	B	0.16603	0.018	B	0.19666	0.026	T	0.12451	-1.0547	10	0.29301	T	0.29	.	3.0104	0.06043	0.1037:0.4019:0.2739:0.2205	.	158	Q9NYV7	T2R16_HUMAN	G	158	ENSP00000249284:E158G	ENSP00000249284:E158G	E	-	2	0	TAS2R16	122422452	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.561000	0.00921	-3.144000	0.00232	-0.256000	0.11100	GAG		0.383	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		13	46	0	0	0	0.001855	0	13	46				
GRIN2A	2903	broad.mit.edu	37	16	9857127	9857127	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:9857127G>C	ENST00000396573.2	-	14	4583	c.4274C>G	c.(4273-4275)tCg>tGg	p.S1425W	GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425W|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425W|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000535259.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1425			S -> L (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S1425L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AACATGCTCCGAAATATACAC	0.473																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.S1425L(1)	skin(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(4273-4275)tCg>tGg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						79.0	72.0	74.0					16																	9857127		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857127G>C		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4274C>G	16.37:g.9857127G>C	ENSP00000379818:p.Ser1425Trp					GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425W|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425W|GRIN2A_ENST00000562109.1_3'UTR	p.S1425W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4583	-			1425					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.4274C>G	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290399	0.40494	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.12255	2.7;2.7;2.7	5.79	4.83	0.62350	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.334636	0.32593	N	0.005891	T	0.28962	0.0719	L	0.60455	1.87	0.80722	D	1	D	0.61697	0.99	P	0.58266	0.836	T	0.01432	-1.1356	9	.	.	.	.	15.2816	0.73790	0.0:0.0:0.8589:0.1411	.	1425	Q12879	NMDE1_HUMAN	W	1425	ENSP00000379818:S1425W;ENSP00000332549:S1425W;ENSP00000379820:S1425W	.	S	-	2	0	GRIN2A	9764628	1.000000	0.71417	0.315000	0.25238	0.931000	0.56810	5.852000	0.69488	1.425000	0.47237	0.655000	0.94253	TCG		0.473	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			17	34	0	0	0	0.004007	0	17	34				
SIPA1L3	23094	broad.mit.edu	37	19	38591744	38591744	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:38591744C>G	ENST00000222345.6	+	6	2416	c.1907C>G	c.(1906-1908)tCc>tGc	p.S636C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	636	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCAGAGCTCCGAGGAGGAG	0.607																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(1906-1908)tCc>tGc		signal-induced proliferation-associated 1 like 3							42.0	41.0	42.0					19																	38591744		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38591744C>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1907C>G	19.37:g.38591744C>G	ENSP00000222345:p.Ser636Cys						p.S636C	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		6	2416	+			636			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.1907C>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041966	0.93685	.	.	ENSG00000105738	ENST00000222345	D	0.94537	-3.45	5.11	5.11	0.69529	Rap/ran-GAP (1);	0.058891	0.64402	D	0.000001	D	0.97371	0.9140	M	0.90650	3.135	0.48830	D	0.999716	D	0.54772	0.968	P	0.59889	0.865	D	0.97929	1.0319	10	0.87932	D	0	-26.18	17.8292	0.88676	0.0:1.0:0.0:0.0	.	636	O60292	SI1L3_HUMAN	C	636	ENSP00000222345:S636C	ENSP00000222345:S636C	S	+	2	0	SIPA1L3	43283584	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	4.393000	0.59665	2.816000	0.96949	0.561000	0.74099	TCC		0.607	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		8	28	0	0	0	0.004482	0	8	28				
SLC27A4	10999	broad.mit.edu	37	9	131115719	131115719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:131115719G>A	ENST00000300456.4	+	9	1340	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	408					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TTCAATAGCCGCATCCTGTCC	0.617																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(1222-1224)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 4							95.0	86.0	89.0					9																	131115719		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131115719G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1223G>A	9.37:g.131115719G>A	ENSP00000300456:p.Arg408His					SLC27A4_ENST00000372870.1_Intron	p.R408H	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			9	1340	+			408					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.1223G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475108	0.84640	.	.	ENSG00000167114	ENST00000300456	T	0.49432	0.78	5.9	5.9	0.94986	AMP-dependent synthetase/ligase (1);	0.054604	0.85682	D	0.000000	T	0.51958	0.1705	M	0.86028	2.79	0.80722	D	1	P	0.40553	0.721	B	0.34652	0.187	T	0.55872	-0.8072	10	0.15499	T	0.54	-23.5392	19.2671	0.93993	0.0:0.0:1.0:0.0	.	408	Q6P1M0	S27A4_HUMAN	H	408	ENSP00000300456:R408H	ENSP00000300456:R408H	R	+	2	0	SLC27A4	130155540	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.483000	0.60264	2.788000	0.95919	0.650000	0.86243	CGC		0.617	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			4	91	0	0	0	0.009096	0	4	91				
KL	9365	broad.mit.edu	37	13	33590903	33590903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:33590903C>G	ENST00000380099.3	+	1	333	c.325C>G	c.(325-327)Ctg>Gtg	p.L109V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	109	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAACGCCAGTCTGCCGTTGGG	0.711																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(325-327)Ctg>Gtg		klotho							11.0	14.0	13.0					13																	33590903		2152	4200	6352	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33590903C>G	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.325C>G	13.37:g.33590903C>G	ENSP00000369442:p.Leu109Val					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	p.L109V	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	333	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	109			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.325C>G	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.959393	0.00465	.	.	ENSG00000133116	ENST00000380099	T	0.21734	1.99	4.1	-2.21	0.06973	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	3.655870	0.01239	N	0.008566	T	0.13200	0.0320	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.21484	-1.0244	10	0.11182	T	0.66	2.4939	6.2747	0.20973	0.0:0.4537:0.2382:0.3081	.	109	Q9UEF7	KLOT_HUMAN	V	109	ENSP00000369442:L109V	ENSP00000369442:L109V	L	+	1	2	KL	32488903	0.949000	0.32298	0.000000	0.03702	0.001000	0.01503	0.000000	0.12993	-1.382000	0.02109	-1.943000	0.00494	CTG		0.711	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			4	23	0	0	0	0.009096	0	4	23				
TAS2R31	259290	broad.mit.edu	37	12	11183044	11183044	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:11183044C>G	ENST00000390675.2	-	1	962	c.891G>C	c.(889-891)gtG>gtC	p.V297V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	297					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						CCCAGTACCTCACTTGCCGCA	0.428																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(889-891)gtG>gtC		taste receptor, type 2, member 31							201.0	203.0	202.0					12																	11183044		1969	4186	6155	SO:0001819	synonymous_variant	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183044C>G	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.891G>C	12.37:g.11183044C>G						TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.V297V	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	962	-			297					P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	c.891G>C	CCDS53747.1																																																																																				0.428	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		48	182	0	0	0	0.014410	0	48	182				
ZNF443	10224	broad.mit.edu	37	19	12541320	12541320	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:12541320C>T	ENST00000301547.5	-	4	1863	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	556					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GGCTTCTCTCCAGAGTGAATT	0.388																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1666-1668)Gga>Aga		zinc finger protein 443							98.0	97.0	97.0					19																	12541320		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541320C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1666G>A	19.37:g.12541320C>T	ENSP00000301547:p.Gly556Arg					CTD-3105H18.16_ENST00000595562.1_Intron	p.G556R	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1863	-			556						Missense_Mutation	SNP	ENST00000301547.5	37	c.1666G>A	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010009	0.54361	.	.	ENSG00000180855	ENST00000301547	T	0.26223	1.75	1.37	0.295	0.15752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37758	0.1015	L	0.48260	1.515	0.33253	D	0.558797	D	0.89917	1.0	D	0.83275	0.996	T	0.48714	-0.9011	9	0.66056	D	0.02	.	6.9386	0.24481	0.0:0.8319:0.0:0.1681	.	556	Q9Y2A4	ZN443_HUMAN	R	556	ENSP00000301547:G556R	ENSP00000301547:G556R	G	-	1	0	ZNF443	12402320	0.903000	0.30736	0.175000	0.22980	0.350000	0.29205	3.457000	0.53007	0.155000	0.19261	0.461000	0.40582	GGA		0.388	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		11	49	0	0	0	0.010729	0	11	49				
KDM7A	80853	broad.mit.edu	37	7	139796488	139796488	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:139796488G>A	ENST00000397560.2	-	17	2338	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	JHDM1D_ENST00000006967.5_Silent_p.S747S|Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		747					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTAAACACGTGGAATAGTGCA	0.483																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(2239-2241)tcC>tcT									134.0	131.0	132.0					7																	139796488		1980	4163	6143	SO:0001819	synonymous_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139796488G>A																												ENST00000397560.2:c.2241C>T	7.37:g.139796488G>A						JHDM1D_ENST00000006967.5_Silent_p.S747S	p.S747S	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			17	2338	-	Melanoma(164;0.0142)		747					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Silent	SNP	ENST00000397560.2	37	c.2241C>T	CCDS43658.1																																																																																				0.483	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			23	64	0	0	0	0.003330	0	23	64				
KAL1	3730	broad.mit.edu	37	X	8522000	8522000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:8522000C>G	ENST00000262648.3	-	9	1496	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	449	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TACCTTCTGTCTTCTTCCAGT	0.413																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1345-1347)aaG>aaC		Kallmann syndrome 1 sequence							116.0	100.0	105.0					X																	8522000		2203	4300	6503	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8522000C>G		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1347G>C	X.37:g.8522000C>G	ENSP00000262648:p.Lys449Asn						p.K449N	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			9	1496	-			449			Fibronectin type-III 3.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1347G>C	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	2.815	-0.246032	0.05906	.	.	ENSG00000011201	ENST00000262648	T	0.54279	0.58	4.2	3.32	0.38043	Fibronectin, type III (2);	0.107611	0.64402	D	0.000007	T	0.53417	0.1795	M	0.73598	2.24	0.30534	N	0.767128	B	0.25563	0.129	B	0.30495	0.116	T	0.52503	-0.8567	10	0.32370	T	0.25	-16.6521	12.2796	0.54757	0.0:0.8998:0.0:0.1002	.	449	P23352	KALM_HUMAN	N	449	ENSP00000262648:K449N	ENSP00000262648:K449N	K	-	3	2	KAL1	8482000	1.000000	0.71417	0.234000	0.24042	0.023000	0.10783	1.188000	0.32102	0.149000	0.19098	-1.195000	0.01675	AAG		0.413	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		5	21	0	0	0	0.001168	0	5	21				
WDR16	146845	broad.mit.edu	37	17	9545105	9545105	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:9545105C>G	ENST00000352665.5	+	13	1709	c.1640C>G	c.(1639-1641)tCg>tGg	p.S547W	WDR16_ENST00000299764.5_Missense_Mutation_p.S557W|WDR16_ENST00000396219.3_Missense_Mutation_p.S479W|RP11-55L4.2_ENST00000584676.1_RNA	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGTCTGGGTCGATAAATGGC	0.458																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1639-1641)tCg>tGg		WD repeat domain 16							119.0	117.0	118.0					17																	9545105		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9545105C>G	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1640C>G	17.37:g.9545105C>G	ENSP00000339449:p.Ser547Trp					WDR16_ENST00000299764.5_Missense_Mutation_p.S557W|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.S479W	p.S547W	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			13	1709	+			547						Missense_Mutation	SNP	ENST00000352665.5	37	c.1640C>G	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098255	0.76870	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.61158	0.13;0.13;0.13	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.227324	0.47093	D	0.000258	T	0.75324	0.3834	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.994	D;D;P	0.71870	0.931;0.975;0.868	T	0.75062	-0.3450	10	0.48119	T	0.1	-4.1529	18.3834	0.90457	0.0:1.0:0.0:0.0	.	557;479;547	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	W	547;479;557	ENSP00000339449:S547W;ENSP00000379521:S479W;ENSP00000299764:S557W	ENSP00000299764:S557W	S	+	2	0	WDR16	9485830	0.808000	0.29022	0.818000	0.32626	0.841000	0.47740	4.316000	0.59178	2.648000	0.89879	0.563000	0.77884	TCG		0.458	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		20	71	0	0	0	0.010504	0	20	71				
SKI	6497	broad.mit.edu	37	1	2160913	2160913	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:2160913C>T	ENST00000378536.4	+	1	780	c.708C>T	c.(706-708)ctC>ctT	p.L236L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	236					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGCCCGAGCTCTACAGCAGCC	0.682																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(706-708)ctC>ctT		v-ski avian sarcoma viral oncogene homolog							16.0	20.0	18.0					1																	2160913		2185	4280	6465	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160913C>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.708C>T	1.37:g.2160913C>T							p.L236L	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	780	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		236					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.708C>T	CCDS39.1																																																																																				0.682	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		10	17	0	0	0	0.006214	0	10	17				
RANBP3L	202151	broad.mit.edu	37	5	36265595	36265595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:36265595G>C	ENST00000296604.3	-	5	781	c.296C>G	c.(295-297)tCa>tGa	p.S99*	RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99*|RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	99					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAAGAGCTGATGTCATAAA	0.299																																						ENST00000296604.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16						c.(295-297)tCa>tGa		RAN binding protein 3-like							85.0	85.0	85.0					5																	36265595		2203	4300	6503	SO:0001587	stop_gained	202151				intracellular transport			g.chr5:36265595G>C	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.296C>G	5.37:g.36265595G>C	ENSP00000296604:p.Ser99*					RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124*|RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99*	p.S99*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		5	781	-	all_lung(31;4.52e-05)		99					B7Z866|E9PGP9|Q96LK2	Nonsense_Mutation	SNP	ENST00000296604.3	37	c.296C>G	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704281	0.30232	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759;ENST00000505865	.	.	.	5.12	5.12	0.69794	.	0.643379	0.14566	N	0.311747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	0.085	14.2461	0.65990	0.0:0.0:1.0:0.0	.	.	.	.	X	99;124;99;99	.	ENSP00000296604:S99X	S	-	2	0	RANBP3L	36301352	0.985000	0.35326	0.927000	0.36925	0.018000	0.09664	3.195000	0.51013	2.817000	0.96982	0.563000	0.77884	TCA		0.299	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		6	32	0	0	0	0.001168	0	6	32				
FLT4	2324	broad.mit.edu	37	5	180047255	180047255	+	Silent	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:180047255C>A	ENST00000261937.6	-	17	2538	c.2460G>T	c.(2458-2460)ggG>ggT	p.G820G	FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G|FLT4_ENST00000424276.2_5'Flank	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	820					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGCACCTCCCCGGGGTCCA	0.652																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2458-2460)ggG>ggT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						79.0	83.0	81.0					5																	180047255		2203	4300	6503	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180047255C>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2460G>T	5.37:g.180047255C>A						FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G	p.G820G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	17	2538	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	820					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2460G>T	CCDS4457.1																																																																																				0.652	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			49	48	1	0	1.86277e-20	0.014410	2.12888e-20	49	48				
NRG3	10718	broad.mit.edu	37	10	84745207	84745207	+	Missense_Mutation	SNP	G	G	T	rs150401464	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:84745207G>T	ENST00000404547.1	+	10	2009	c.2009G>T	c.(2008-2010)cGg>cTg	p.R670L	NRG3_ENST00000372141.2_Missense_Mutation_p.R646L|NRG3_ENST00000404576.2_Missense_Mutation_p.R450L|NRG3_ENST00000372142.2_Missense_Mutation_p.R449L|NRG3_ENST00000556918.1_Missense_Mutation_p.R476L|NRG3_ENST00000545131.1_Missense_Mutation_p.R296L|NRG3_ENST00000537893.1_Missense_Mutation_p.R296L			P56975	NRG3_HUMAN	neuregulin 3	670					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GATGCCAGACGGTCAGAAGAC	0.483																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1345-1347)cGg>cTg		neuregulin 3							72.0	69.0	70.0					10																	84745207		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745207G>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2009G>T	10.37:g.84745207G>T	ENSP00000384796:p.Arg670Leu					NRG3_ENST00000372141.2_Missense_Mutation_p.R646L|NRG3_ENST00000556918.1_Missense_Mutation_p.R476L|NRG3_ENST00000537893.1_Missense_Mutation_p.R296L|NRG3_ENST00000545131.1_Missense_Mutation_p.R296L|NRG3_ENST00000404576.2_Missense_Mutation_p.R450L|NRG3_ENST00000404547.1_Missense_Mutation_p.R670L	p.R449L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	11	1620	+			670					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1346G>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190993	0.58017	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.68903	0.27;0.44;0.5;-0.36;0.21;-0.18;-0.18	5.54	4.63	0.57726	.	0.071482	0.52532	D	0.000073	T	0.75874	0.3909	L	0.53249	1.67	0.53688	D	0.999976	B;D;P;D	0.71674	0.364;0.997;0.841;0.998	B;D;B;D	0.65987	0.168;0.919;0.358;0.94	T	0.78127	-0.2325	10	0.87932	D	0	-32.1113	12.5326	0.56124	0.0814:0.0:0.9186:0.0	.	645;670;449;646	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	L	646;670;645;449;450;476;296;296	ENSP00000361214:R646L;ENSP00000384796:R670L;ENSP00000361215:R449L;ENSP00000385804:R450L;ENSP00000451376:R476L;ENSP00000441201:R296L;ENSP00000440377:R296L	ENSP00000361214:R646L	R	+	2	0	NRG3	84735187	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.005000	0.63972	1.334000	0.45468	0.655000	0.94253	CGG		0.483	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		15	29	1	0	2.32078e-09	0.003163	2.57702e-09	15	29				
ITGA2	3673	broad.mit.edu	37	5	52351412	52351412	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:52351412C>T	ENST00000296585.5	+	8	967	c.824C>T	c.(823-825)aCg>aTg	p.T275M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	275	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CGAAGTGCTACGAAAGTAATG	0.373																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(823-825)aCg>aTg		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							163.0	155.0	158.0					5																	52351412		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52351412C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.824C>T	5.37:g.52351412C>T	ENSP00000296585:p.Thr275Met						p.T275M	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			8	967	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	275			VWFA.		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.824C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110497	0.77210	.	.	ENSG00000164171	ENST00000296585	D	0.83591	-1.74	5.54	5.54	0.83059	von Willebrand factor, type A (3);	0.173963	0.52532	D	0.000076	D	0.89427	0.6712	M	0.73962	2.25	0.48830	D	0.999713	D;D	0.89917	0.996;1.0	D;P	0.63192	0.912;0.894	D	0.89829	0.3994	10	0.56958	D	0.05	.	14.331	0.66556	0.1483:0.8517:0.0:0.0	.	275;275	E7ESP4;P17301	.;ITA2_HUMAN	M	275	ENSP00000296585:T275M	ENSP00000296585:T275M	T	+	2	0	ITGA2	52387169	0.942000	0.31987	0.951000	0.38953	0.907000	0.53573	4.290000	0.59019	2.593000	0.87608	0.650000	0.86243	ACG		0.373	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		15	58	0	0	0	0.002450	0	15	58				
C4orf33	132321	broad.mit.edu	37	4	130023861	130023861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:130023861G>A	ENST00000281146.5	+	2	817	c.96G>A	c.(94-96)atG>atA	p.M32I	C4orf33_ENST00000425929.1_Missense_Mutation_p.M32I|C4orf33_ENST00000502887.1_Missense_Mutation_p.M32I	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	32										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GAGTGATGATGGACATTAGTG	0.438																																						ENST00000281146.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(94-96)atG>atA		chromosome 4 open reading frame 33							146.0	140.0	142.0					4																	130023861		2203	4300	6503	SO:0001583	missense	132321							g.chr4:130023861G>A	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.96G>A	4.37:g.130023861G>A	ENSP00000281146:p.Met32Ile					C4orf33_ENST00000425929.1_Missense_Mutation_p.M32I|C4orf33_ENST00000502887.1_Missense_Mutation_p.M32I	p.M32I	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN			2	817	+			32					D3DNY2|Q6PJF3|Q8NBC5	Missense_Mutation	SNP	ENST00000281146.5	37	c.96G>A	CCDS3741.1	.	.	.	.	.	.	.	.	.	.	g	6.961	0.547234	0.13312	.	.	ENSG00000151470	ENST00000281146;ENST00000502887;ENST00000425929;ENST00000508673;ENST00000508622	T;T;T;T;T	0.39056	2.44;2.13;2.44;1.1;1.14	4.59	3.75	0.43078	.	0.156200	0.64402	N	0.000001	T	0.31167	0.0788	L	0.37507	1.11	0.41248	D	0.986697	B;B	0.24721	0.046;0.11	B;B	0.22152	0.026;0.038	T	0.08493	-1.0719	10	0.20519	T	0.43	-51.8837	12.2169	0.54412	0.0851:0.0:0.9149:0.0	.	32;32	D6RIT3;Q8N1A6	.;CD033_HUMAN	I	32	ENSP00000281146:M32I;ENSP00000427406:M32I;ENSP00000401090:M32I;ENSP00000427096:M32I;ENSP00000427431:M32I	ENSP00000281146:M32I	M	+	3	0	C4orf33	130243311	1.000000	0.71417	0.965000	0.40720	0.125000	0.20455	4.021000	0.57196	1.288000	0.44600	-0.119000	0.15052	ATG		0.438	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	NM_173487		13	48	0	0	0	0.002450	0	13	48				
KRTAP10-6	386674	broad.mit.edu	37	21	46011649	46011649	+	Missense_Mutation	SNP	A	A	C	rs587622046	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:46011649A>C	ENST00000400368.1	-	1	737	c.717T>G	c.(715-717)tgT>tgG	p.C239W	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	239	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGTGGGCACACAGCACACAG	0.657																																						ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(715-717)tgT>tgG		keratin associated protein 10-6							145.0	146.0	146.0					21																	46011649		2203	4300	6503	SO:0001583	missense	386674					keratin filament		g.chr21:46011649A>C	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.717T>G	21.37:g.46011649A>C	ENSP00000383219:p.Cys239Trp					TSPEAR_ENST00000323084.4_Intron	p.C239W	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	737	-			239			29 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000400368.1	37	c.717T>G	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	a	3.133	-0.178059	0.06380	.	.	ENSG00000188155	ENST00000400368	T	0.02606	4.23	2.84	-3.52	0.04682	.	.	.	.	.	T	0.11452	0.0279	H	0.97587	4.035	0.09310	N	0.999992	P	0.44344	0.833	P	0.45406	0.479	T	0.01578	-1.1320	9	0.87932	D	0	.	8.181	0.31311	0.587:0.0:0.413:0.0	.	239	P60371	KR106_HUMAN	W	239	ENSP00000383219:C239W	ENSP00000383219:C239W	C	-	3	2	KRTAP10-6	44836077	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-0.692000	0.05127	-0.847000	0.04168	0.319000	0.21371	TGT		0.657	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		70	197	0	0	0	0.014410	0	70	197				
PLCE1	51196	broad.mit.edu	37	10	95791437	95791437	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791437G>T	ENST00000371380.3	+	1	869	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	PLCE1_ENST00000260766.3_Missense_Mutation_p.D212Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	212					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.D212N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTTTAGACGATTGTGGAAA	0.388																																						ENST00000260766.3																			1	Substitution - Missense(1)	p.D212N(1)	NS(1)	liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(634-636)Gat>Tat		phospholipase C, epsilon 1							84.0	80.0	81.0					10																	95791437		1879	4102	5981	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791437G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.634G>T	10.37:g.95791437G>T	ENSP00000360431:p.Asp212Tyr					PLCE1_ENST00000371380.2_Missense_Mutation_p.D212Y	p.D212Y	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	1268	+		Colorectal(252;0.0458)	212					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.634G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	9.882	1.201795	0.22121	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.73469	-0.75;-0.75	4.98	4.03	0.46877	.	0.451574	0.18550	N	0.137934	T	0.73265	0.3565	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61800	0.894;0.894	T	0.74250	-0.3726	10	0.87932	D	0	.	9.2375	0.37475	0.1735:0.0:0.8265:0.0	.	212;212	B7ZM61;Q9P212	.;PLCE1_HUMAN	Y	212	ENSP00000260766:D212Y;ENSP00000360431:D212Y	ENSP00000260766:D212Y	D	+	1	0	PLCE1	95781427	1.000000	0.71417	0.995000	0.50966	0.032000	0.12392	2.783000	0.47766	1.144000	0.42321	-0.345000	0.07892	GAT		0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		16	45	1	0	1.62849e-17	0.004007	1.84913e-17	16	45				
ZNF28	7576	broad.mit.edu	37	19	53303120	53303120	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53303120C>G	ENST00000457749.2	-	4	2097	c.1978G>C	c.(1978-1980)Gag>Cag	p.E660Q	ZNF28_ENST00000360272.4_Missense_Mutation_p.E607Q|ZNF28_ENST00000438150.2_Missense_Mutation_p.E607Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.E607Q	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TAAGGTTTCTCTCCACTATGA	0.423																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1819-1821)Gag>Cag		zinc finger protein 28							170.0	160.0	163.0					19																	53303120		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303120C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1978G>C	19.37:g.53303120C>G	ENSP00000397693:p.Glu660Gln					ZNF28_ENST00000457749.2_Missense_Mutation_p.E660Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.E607Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.E607Q	p.E607Q			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2712	-			660					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1819G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	16.88	3.244264	0.59103	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	1.81	1.81	0.25067	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26919	0.0659	L	0.45744	1.44	0.25326	N	0.98908	P	0.45902	0.868	P	0.44623	0.455	T	0.12116	-1.0560	9	0.72032	D	0.01	.	10.6341	0.45554	0.0:1.0:0.0:0.0	.	660	P17035	ZNF28_HUMAN	Q	607;660;607;607	ENSP00000412143:E607Q;ENSP00000397693:E660Q;ENSP00000353410:E607Q;ENSP00000444965:E607Q	ENSP00000353410:E607Q	E	-	1	0	ZNF28	57994932	0.009000	0.17119	0.286000	0.24833	0.064000	0.16182	2.414000	0.44627	0.995000	0.38917	0.298000	0.19748	GAG		0.423	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		26	231	0	0	0	0.003330	0	26	231				
BRWD3	254065	broad.mit.edu	37	X	79980467	79980467	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:79980467C>T	ENST00000373275.4	-	15	1702	c.1486G>A	c.(1486-1488)Gac>Aac	p.D496N	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	496					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTCCCCCGGTCAAGGTCCCAA	0.388																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1486-1488)Gac>Aac		bromodomain and WD repeat domain containing 3							99.0	86.0	91.0					X																	79980467		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79980467C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1486G>A	X.37:g.79980467C>T	ENSP00000362372:p.Asp496Asn						p.D496N	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			15	1702	-			496					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1486G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874287	0.33069	.	.	ENSG00000165288	ENST00000373275	T	0.42513	0.97	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.159177	0.56097	D	0.000024	T	0.29355	0.0731	N	0.17248	0.465	0.34480	D	0.703798	B	0.10296	0.003	B	0.09377	0.004	T	0.24476	-1.0159	9	.	.	.	-11.0384	17.9334	0.89005	0.0:1.0:0.0:0.0	.	496	Q6RI45	BRWD3_HUMAN	N	496	ENSP00000362372:D496N	.	D	-	1	0	BRWD3	79867123	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.042000	0.41222	2.425000	0.82216	0.600000	0.82982	GAC		0.388	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		8	14	0	0	0	0.004482	0	8	14				
FAM135B	51059	broad.mit.edu	37	8	139263255	139263255	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:139263255A>C	ENST00000395297.1	-	6	541	c.371T>G	c.(370-372)tTg>tGg	p.L124W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	124										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACATCCCTCAACCTAGAAGG	0.592										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(370-372)tTg>tGg		family with sequence similarity 135, member B							81.0	92.0	88.0					8																	139263255		2150	4245	6395	SO:0001583	missense	51059							g.chr8:139263255A>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.371T>G	8.37:g.139263255A>C	ENSP00000378710:p.Leu124Trp	HNSCC(54;0.14)					p.L124W	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	541	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		124					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.371T>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953247	0.73902	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.18338	2.22	5.61	4.25	0.50352	.	0.000000	0.64402	D	0.000010	T	0.38348	0.1037	M	0.70595	2.14	0.44409	D	0.997324	D	0.89917	1.0	D	0.87578	0.998	T	0.12630	-1.0540	10	0.51188	T	0.08	-11.3562	11.373	0.49711	0.917:0.0:0.083:0.0	.	124	Q49AJ0	F135B_HUMAN	W	124	ENSP00000378710:L124W	ENSP00000160713:L124W	L	-	2	0	FAM135B	139332437	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.118000	0.71583	2.146000	0.66826	0.533000	0.62120	TTG		0.592	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		42	109	0	0	0	0.011902	0	42	109				
FGGY	55277	broad.mit.edu	37	1	59812064	59812064	+	Silent	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:59812064G>C	ENST00000303721.7	+	4	633	c.459G>C	c.(457-459)ctG>ctC	p.L153L	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371218.4_Silent_p.L153L|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	153					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTCTGTGGCTGAAAGAGGTGA	0.498																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(457-459)ctG>ctC		FGGY carbohydrate kinase domain containing							106.0	82.0	90.0					1																	59812064		2203	4300	6503	SO:0001819	synonymous_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812064G>C		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.459G>C	1.37:g.59812064G>C						FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Silent_p.L153L|FGGY_ENST00000474476.1_3'UTR	p.L153L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			4	643	+	all_cancers(7;7.36e-05)		153					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	c.459G>C	CCDS611.2																																																																																				0.498	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		9	19	0	0	0	0.006214	0	9	19				
CKLF	51192	broad.mit.edu	37	16	66597116	66597116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:66597116G>A	ENST00000264001.4	+	3	478	c.329G>A	c.(328-330)gGa>gAa	p.G110E	CKLF_ENST00000563092.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF-CMTM1_ENST00000532838.1_Missense_Mutation_p.G57E|CKLF_ENST00000351137.4_Missense_Mutation_p.G57E|CKLF_ENST00000345436.4_Intron|CKLF_ENST00000362093.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.G110E	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	110	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ACAGTTGGTGGAGGGGTAAGT	0.368																																						ENST00000264001.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(328-330)gGa>gAa		chemokine-like factor							151.0	125.0	134.0					16																	66597116		2201	4300	6501	SO:0001583	missense	51192							g.chr16:66597116G>A	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"""chemokine-like factor 1"""	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.329G>A	16.37:g.66597116G>A	ENSP00000264001:p.Gly110Glu					CKLF_ENST00000362093.4_Intron|CKLF_ENST00000532838.1_Missense_Mutation_p.G57E|CKLF_ENST00000345436.4_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000351137.4_Missense_Mutation_p.G57E|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000417030.2_Missense_Mutation_p.G110E	p.G110E	NM_016951.3	NP_058647.1				OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)	3	478	+		Ovarian(137;0.0563)						C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Missense_Mutation	SNP	ENST00000264001.4	37	c.329G>A	CCDS10807.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.418895	0.62622	.	.	ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000254788	ENST00000264001;ENST00000351137;ENST00000361141;ENST00000417030;ENST00000532838;ENST00000529718	T;T	0.72615	0.4;-0.67	5.02	5.02	0.67125	Marvel (1);	.	.	.	.	T	0.77805	0.4185	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.974;1.0	T	0.72050	-0.4407	9	0.07030	T	0.85	-29.1038	13.7178	0.62708	0.0:0.0:1.0:0.0	.	110;110;57	Q9UBR5-5;Q9UBR5;Q5BJH6	.;CKLF_HUMAN;.	E	110;57;110;110;57;29	ENSP00000264001:G110E;ENSP00000416678:G110E	ENSP00000433503:G29E	G	+	2	0	CKLF;CKLF-CMTM1	65154617	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	3.034000	0.49751	2.608000	0.88229	0.650000	0.86243	GGA		0.368	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268816.2	NM_016326		8	35	0	0	0	0.004482	0	8	35				
TTN	7273	broad.mit.edu	37	2	179474959	179474959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179474959C>T	ENST00000591111.1	-	221	46595	c.46371G>A	c.(46369-46371)atG>atA	p.M15457I	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M8033I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M8225I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M8158I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M17098I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M14530I			Q8WZ42	TITIN_HUMAN	titin	15457	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCACCAGACATGACTGGTA	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(51292-51294)atG>atA		titin							197.0	191.0	193.0					2																	179474959		1937	4144	6081	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474959C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46371G>A	2.37:g.179474959C>T	ENSP00000465570:p.Met15457Ile					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M14530I|TTN_ENST00000342175.6_Missense_Mutation_p.M8225I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M15457I|TTN_ENST00000460472.2_Missense_Mutation_p.M8033I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M8158I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.M17098I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		271	51518	-			15457			Ig-like 102.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.51294G>A		.	.	.	.	.	.	.	.	.	.	C	16.04	3.010140	0.54361	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61714	0.2369	N	0.17800	0.525	0.58432	D	0.999999	D;D;D;D	0.59357	0.985;0.985;0.985;0.985	D;D;D;D	0.72338	0.977;0.977;0.977;0.977	T	0.66460	-0.5918	9	0.87932	D	0	.	19.6974	0.96031	0.0:1.0:0.0:0.0	.	8033;8158;8225;15457	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14530;8033;8225;8158;8033	ENSP00000343764:M14530I;ENSP00000434586:M8033I;ENSP00000340554:M8225I;ENSP00000352154:M8158I	ENSP00000340554:M8225I	M	-	3	0	TTN	179183204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.650000	0.89964	0.655000	0.94253	ATG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		144	169	0	0	0	0.014410	0	144	169				
ZNF415	55786	broad.mit.edu	37	19	53612314	53612314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53612314G>T	ENST00000500065.4	-	4	1317	c.984C>A	c.(982-984)taC>taA	p.Y328*	ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Y98*|ZNF415_ENST00000455735.2_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Y315*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Y340*|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTTTACATGTGTAAGGTTTCT	0.398																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1126-1128)taC>taA		zinc finger protein 415							82.0	76.0	78.0					19																	53612314		2203	4300	6503	SO:0001587	stop_gained	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612314G>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.984C>A	19.37:g.53612314G>T	ENSP00000439435:p.Tyr328*					ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Y98*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Y315*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Y340*	p.Y376*			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1448	-			376					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	ENST00000500065.4	37	c.1128C>A	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981671	0.74474	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.78	-0.648	0.11464	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7644	0.23558	0.4696:0.0:0.5304:0.0	.	.	.	.	X	328;328;376;340;376;315	.	ENSP00000243643:Y328X	Y	-	3	2	ZNF415	58304126	0.000000	0.05858	0.007000	0.13788	0.097000	0.18754	-0.656000	0.05342	0.079000	0.16929	0.491000	0.48974	TAC		0.398	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		40	41	1	0	5.71845e-15	0.005524	6.45159e-15	40	41				
SLC5A7	60482	broad.mit.edu	37	2	108608589	108608589	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:108608589A>G	ENST00000264047.2	+	3	482	c.206A>G	c.(205-207)aAt>aGt	p.N69S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.N69S|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	69					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGGTATATCAATGGCACAGCT	0.458																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(205-207)aAt>aGt		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						177.0	150.0	159.0					2																	108608589		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108608589A>G	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.206A>G	2.37:g.108608589A>G	ENSP00000264047:p.Asn69Ser					SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Missense_Mutation_p.N69S	p.N69S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			3	482	+			69					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.206A>G	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072690	0.76415	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.87571	-2.27;-2.27	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.86952	0.6057	L	0.52126	1.63	0.80722	D	1	P	0.42123	0.771	P	0.44422	0.449	D	0.86556	0.1838	10	0.44086	T	0.13	-0.4764	16.8061	0.85666	1.0:0.0:0.0:0.0	.	69	Q9GZV3	SC5A7_HUMAN	S	69	ENSP00000387346:N69S;ENSP00000264047:N69S	ENSP00000264047:N69S	N	+	2	0	SLC5A7	107975021	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	AAT		0.458	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			16	24	0	0	0	0.004990	0	16	24				
IDUA	3425	broad.mit.edu	37	4	995557	995557	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:995557C>G	ENST00000247933.4	+	6	768	c.680C>G	c.(679-681)aCc>aGc	p.T227S	IDUA_ENST00000514224.1_Missense_Mutation_p.T95S|IDUA_ENST00000453894.1_Missense_Mutation_p.T180S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	227					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCTTCCACACCCCACCGCGA	0.711																																						ENST00000453894.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(538-540)aCc>aGc		iduronidase, alpha-L-	Laronidase(DB00090)						11.0	12.0	12.0					4																	995557		2179	4278	6457	SO:0001583	missense	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:995557C>G	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.680C>G	4.37:g.995557C>G	ENSP00000247933:p.Thr227Ser					IDUA_ENST00000514224.1_Missense_Mutation_p.T95S|IDUA_ENST00000247933.4_Missense_Mutation_p.T227S	p.T180S			P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		5	627	+			227					B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	c.539C>G	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	C	2.787	-0.252139	0.05829	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000502910;ENST00000514192;ENST00000509948;ENST00000514224	D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	5.42	4.56	0.56223	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.259165	0.40144	N	0.001178	T	0.77987	0.4213	N	0.00446	-1.495	0.21802	N	0.999535	B;B	0.14438	0.01;0.004	B;B	0.13407	0.004;0.009	T	0.64769	-0.6329	10	0.02654	T	1	-0.0826	13.0835	0.59127	0.162:0.838:0.0:0.0	.	180;227	B3KWK6;P35475	.;IDUA_HUMAN	S	227;180;180;166;158;95	ENSP00000247933:T227S;ENSP00000396458:T180S;ENSP00000422952:T180S;ENSP00000423685:T166S;ENSP00000424227:T158S;ENSP00000425081:T95S	ENSP00000247933:T227S	T	+	2	0	IDUA	985557	0.026000	0.19158	0.537000	0.28052	0.006000	0.05464	3.007000	0.49536	1.262000	0.44165	0.555000	0.69702	ACC		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		3	16	0	0	0	0.009096	0	3	16				
ELP4	26610	broad.mit.edu	37	11	31531473	31531473	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:31531473T>C	ENST00000350638.5	+	1	177	c.142T>C	c.(142-144)Tcc>Ccc	p.S48P	IMMP1L_ENST00000532287.1_5'Flank|IMMP1L_ENST00000278200.1_5'Flank|IMMP1L_ENST00000533642.1_5'Flank|ELP4_ENST00000395934.2_Missense_Mutation_p.S48P|IMMP1L_ENST00000534812.1_5'Flank|IMMP1L_ENST00000526776.1_5'Flank|ELP4_ENST00000379163.5_Missense_Mutation_p.S48P|IMMP1L_ENST00000528161.1_5'Flank	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	48					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TCGACTGGTGTCCATTGCGGG	0.627																																						ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(142-144)Tcc>Ccc		elongator acetyltransferase complex subunit 4							58.0	63.0	61.0					11																	31531473		2022	4172	6194	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31531473T>C	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.142T>C	11.37:g.31531473T>C	ENSP00000298937:p.Ser48Pro					ELP4_ENST00000350638.5_Missense_Mutation_p.S48P|ELP4_ENST00000379163.5_Missense_Mutation_p.S48P	p.S48P			Q96EB1	ELP4_HUMAN			1	149	+	Lung SC(675;0.225)		48					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.142T>C	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.884524	0.91814	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.43688	0.94;0.94;0.94	5.51	5.51	0.81932	.	0.225077	0.47093	D	0.000242	T	0.41789	0.1174	N	0.16066	0.365	0.33492	D	0.588801	D;D;D	0.71674	0.998;0.998;0.988	D;P;P	0.63488	0.915;0.905;0.796	T	0.52087	-0.8622	10	0.28530	T	0.3	-1.0315	11.0988	0.48161	0.0:0.0:0.1542:0.8458	.	48;48;48	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	P	48	ENSP00000298937:S48P;ENSP00000368461:S48P;ENSP00000379267:S48P	ENSP00000298937:S48P	S	+	1	0	ELP4	31488049	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.839000	0.39220	2.213000	0.71641	0.454000	0.30748	TCC		0.627	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		27	59	0	0	0	0.003954	0	27	59				
C6	729	broad.mit.edu	37	5	41143093	41143093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:41143093C>G	ENST00000263413.3	-	18	2903	c.2639G>C	c.(2638-2640)tGt>tCt	p.C880S	C6_ENST00000337836.5_Missense_Mutation_p.C880S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	880	C5b-binding domain.|Factor I module (FIM) 2.|Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAGGCAGACACATTTGGAAGT	0.458																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2638-2640)tGt>tCt		complement component 6							113.0	99.0	104.0					5																	41143093		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41143093C>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2639G>C	5.37:g.41143093C>G	ENSP00000263413:p.Cys880Ser					C6_ENST00000337836.5_Missense_Mutation_p.C880S	p.C880S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			18	2903	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	880			C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2639G>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024453	0.75390	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.72835	-0.69;-0.69	5.71	5.71	0.89125	Factor I / membrane attack complex (1);	2.332300	0.01464	N	0.016011	T	0.81772	0.4893	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67787	-0.5580	10	0.72032	D	0.01	-14.6488	19.472	0.94966	0.0:1.0:0.0:0.0	.	880	P13671	CO6_HUMAN	S	880	ENSP00000338861:C880S;ENSP00000263413:C880S	ENSP00000263413:C880S	C	-	2	0	C6	41178850	0.995000	0.38212	0.938000	0.37757	0.783000	0.44284	5.109000	0.64615	2.712000	0.92718	0.650000	0.86243	TGT		0.458	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			12	53	0	0	0	0.013537	0	12	53				
TCN1	6947	broad.mit.edu	37	11	59631479	59631479	+	Missense_Mutation	SNP	C	C	T	rs200856109	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:59631479C>T	ENST00000257264.3	-	2	264	c.160G>A	c.(160-162)Gct>Act	p.A54T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	54	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATTGACAGCGCTGGTTCCC	0.418													C|||	3	0.000599042	0.0	0.0	5008	,	,		18913	0.002		0.0	False		,,,				2504	0.001					ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(160-162)Gct>Act		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						248.0	238.0	242.0					11																	59631479		2201	4294	6495	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59631479C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.160G>A	11.37:g.59631479C>T	ENSP00000257264:p.Ala54Thr					TCN1_ENST00000532419.1_5'UTR	p.A54T	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			2	264	-		all_epithelial(135;0.198)	54					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.160G>A	CCDS7978.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.185	0.794717	0.16327	.	.	ENSG00000134827	ENST00000257264	T	0.36157	1.27	4.54	-2.35	0.06684	.	0.787698	0.11134	N	0.595985	T	0.14570	0.0352	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.32903	-0.9889	10	0.05436	T	0.98	.	4.3538	0.11169	0.2936:0.36:0.0:0.3464	.	54	P20061	TCO1_HUMAN	T	54	ENSP00000257264:A54T	ENSP00000257264:A54T	A	-	1	0	TCN1	59388055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.968000	0.03817	-0.651000	0.05415	-1.966000	0.00469	GCT		0.418	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		45	150	0	0	0	0.009718	0	45	150				
FANCL	55120	broad.mit.edu	37	2	58388764	58388764	+	Missense_Mutation	SNP	T	T	C	rs553742734	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:58388764T>C	ENST00000233741.4	-	12	949	c.913A>G	c.(913-915)Atg>Gtg	p.M305V	FANCL_ENST00000403295.3_Missense_Mutation_p.M277V|FANCL_ENST00000402135.3_Missense_Mutation_p.M310V|FANCL_ENST00000403676.1_Missense_Mutation_p.M188V	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	305					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CCACAATCCATAGTAAAATCC	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000402135.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						c.(928-930)Atg>Gtg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group L							77.0	77.0	77.0					2																	58388764		2202	4299	6501	SO:0001583	missense	55120	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58388764T>C	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.913A>G	2.37:g.58388764T>C	ENSP00000233741:p.Met305Val					FANCL_ENST00000403295.3_Missense_Mutation_p.M277V|FANCL_ENST00000233741.4_Missense_Mutation_p.M305V|FANCL_ENST00000403676.1_Missense_Mutation_p.M188V	p.M310V	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN			12	964	-			305					Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	c.928A>G	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	T	6.129	0.392123	0.11581	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070;ENST00000446381	T;T;T;T;T	0.39229	1.09;1.1;1.1;1.09;1.1	5.91	3.55	0.40652	Zinc finger, RING/FYVE/PHD-type (1);	0.375973	0.37136	N	0.002228	T	0.20373	0.0490	N	0.05351	-0.065	0.80722	D	1	B;B;B;B	0.15141	0.002;0.001;0.012;0.004	B;B;B;B	0.15484	0.009;0.005;0.01;0.013	T	0.05037	-1.0910	10	0.12103	T	0.63	-11.8427	10.3064	0.43683	0.0:0.1329:0.0:0.8671	.	246;277;310;305	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	V	277;305;310;188;246;157	ENSP00000386097:M277V;ENSP00000233741:M305V;ENSP00000385021:M310V;ENSP00000384046:M188V;ENSP00000401280:M246V	ENSP00000233741:M305V	M	-	1	0	FANCL	58242268	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.327000	0.43858	0.500000	0.27991	-0.256000	0.11100	ATG		0.333	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		2	19	0	0	0	0.004672	0	2	19				
CCDC93	54520	broad.mit.edu	37	2	118758500	118758500	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:118758500G>C	ENST00000376300.2	-	4	397	c.260C>G	c.(259-261)tCa>tGa	p.S87*	AC009303.1_ENST00000590516.1_RNA|RP11-98C1.2_ENST00000591103.1_RNA|RP11-98C1.1_ENST00000588733.1_RNA|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.S87*|AC009303.1_ENST00000588042.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	87										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AATTTTTTCTGACAGAGCTCT	0.463																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(259-261)tCa>tGa		coiled-coil domain containing 93							77.0	79.0	78.0					2																	118758500		2203	4300	6503	SO:0001587	stop_gained	54520							g.chr2:118758500G>C	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.260C>G	2.37:g.118758500G>C	ENSP00000365477:p.Ser87*					AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.S87*	p.S87*	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			4	397	-			87					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Nonsense_Mutation	SNP	ENST00000376300.2	37	c.260C>G	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	38	7.194865	0.98129	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	.	.	.	5.01	5.01	0.66863	.	0.056971	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.5417	17.6037	0.88032	0.0:0.0:1.0:0.0	.	.	.	.	X	87	.	ENSP00000324135:S87X	S	-	2	0	CCDC93	118474970	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	8.991000	0.93514	2.767000	0.95098	0.591000	0.81541	TCA		0.463	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		14	29	0	0	0	0.004990	0	14	29				
MARCH4	57574	broad.mit.edu	37	2	217124226	217124226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:217124226C>A	ENST00000273067.4	-	4	2808	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	348						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GTCTCCTCTTCCGAGGAGGGG	0.622																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(1042-1044)Gaa>Taa		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							55.0	55.0	55.0					2																	217124226		2203	4300	6503	SO:0001587	stop_gained	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124226C>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1042G>T	2.37:g.217124226C>A	ENSP00000273067:p.Glu348*						p.E348*	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2808	-		Renal(323;0.0854)	348					Q4KMN7|Q86WR8	Nonsense_Mutation	SNP	ENST00000273067.4	37	c.1042G>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	50	17.027578	0.99877	.	.	ENSG00000144583	ENST00000273067	.	.	.	5.62	3.81	0.43845	.	0.898941	0.09702	N	0.766830	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-21.9528	6.7176	0.23312	0.1451:0.695:0.0:0.1599	.	.	.	.	X	348	.	ENSP00000273067:E348X	E	-	1	0	MARCH4	216832471	0.054000	0.20591	0.001000	0.08648	0.449000	0.32228	1.710000	0.37920	0.722000	0.32252	0.561000	0.74099	GAA		0.622	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		18	27	1	0	5.35267e-07	0.007413	5.86959e-07	18	27				
BAIAP2L1	55971	broad.mit.edu	37	7	97935815	97935815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:97935815G>A	ENST00000005260.8	-	11	1392	c.1177C>T	c.(1177-1179)Ccg>Tcg	p.P393S	BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000609873.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	393	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TACGACGACGGGAACCAACCC	0.572																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(1177-1179)Ccg>Tcg		BAI1-associated protein 2-like 1							158.0	127.0	137.0					7																	97935815		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97935815G>A	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1177C>T	7.37:g.97935815G>A	ENSP00000005260:p.Pro393Ser						p.P393S	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		11	1392	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		393			SH3.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.1177C>T	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336863	0.81801	.	.	ENSG00000006453	ENST00000005260	D	0.99454	-5.92	5.28	5.28	0.74379	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97308	0.9935	10	0.72032	D	0.01	-19.4529	16.7557	0.85498	0.0:0.0:1.0:0.0	.	393	Q9UHR4	BI2L1_HUMAN	S	393	ENSP00000005260:P393S	ENSP00000005260:P393S	P	-	1	0	AC093799.1	97773751	1.000000	0.71417	0.999000	0.59377	0.649000	0.38597	7.457000	0.80775	2.650000	0.89964	0.591000	0.81541	CCG		0.572	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		25	71	0	0	0	0.004656	0	25	71				
ECE2	9718	broad.mit.edu	37	3	183994461	183994461	+	Intron	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:183994461C>T	ENST00000402825.3	+	3	480				EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.R78C|ECE2_ENST00000404464.3_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCCACCTCCGCTCCATCTC	0.617																																						ENST00000357474.5																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(232-234)Cgc>Tgc		endothelin converting enzyme 2							19.0	20.0	20.0					3																	183994461		2105	4222	6327	SO:0001627	intron_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183994461C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-219C>T	3.37:g.183994461C>T						EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Intron|ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron	p.R78C			O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	351	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		152			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.232C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262093	0.39995	.	.	ENSG00000145194	ENST00000357474;ENST00000430587	D;T	0.82619	-1.63;-1.38	2.29	-2.1	0.07210	.	2.368260	0.02064	U	0.051021	T	0.64438	0.2598	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51379	-0.8713	10	0.54805	T	0.06	.	0.879	0.01230	0.1816:0.396:0.1785:0.2439	.	78;78	B7Z1P1;O60344-5	.;.	C	78;24	ENSP00000350066:R78C;ENSP00000398444:R24C	ENSP00000350066:R78C	R	+	1	0	ECE2	185477155	0.000000	0.05858	0.003000	0.11579	0.895000	0.52256	-1.864000	0.01650	-0.633000	0.05545	0.462000	0.41574	CGC		0.617	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		3	5	0	0	0	0.009096	0	3	5				
MYH3	4621	broad.mit.edu	37	17	10547749	10547749	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:10547749G>A	ENST00000583535.1	-	14	1416	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	MYH3_ENST00000226209.7_Silent_p.R443R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	443	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTGGTTAATGCGAGTGACCA	0.398																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1327-1329)cgC>cgT		myosin, heavy chain 3, skeletal muscle, embryonic							145.0	141.0	142.0					17																	10547749		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10547749G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1329C>T	17.37:g.10547749G>A						MYH3_ENST00000226209.7_Silent_p.R443R	p.R443R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			14	1416	-			443			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.1329C>T	CCDS11157.1																																																																																				0.398	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		22	68	0	0	0	0.012319	0	22	68				
COCH	1690	broad.mit.edu	37	14	31348691	31348691	+	Splice_Site	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:31348691G>C	ENST00000396618.3	+	6	492	c.436G>C	c.(436-438)Ggt>Cgt	p.G146R	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Splice_Site_p.G146R|COCH_ENST00000382493.4_5'Flank|COCH_ENST00000216361.4_Splice_Site_p.G146R|COCH_ENST00000460581.2_Splice_Site_p.G34R	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	146					defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCCACCAACAGGTATGAACTA	0.383																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.e4+1		cochlin							96.0	89.0	91.0					14																	31348691		2203	4300	6503	SO:0001630	splice_region_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31348691G>C		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.436+1G>C	14.37:g.31348691G>C						RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Splice_Site_p.G146_splice|COCH_ENST00000216361.4_Splice_Site_p.G146_splice|COCH_ENST00000396618.3_Splice_Site_p.G146_splice	p.G34_splice			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	4	646	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		146			LCCL.		A8K9K9|D3DS84|Q96IU6	Splice_Site	SNP	ENST00000396618.3	37	c.100_splice	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477832	0.84640	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908;ENST00000460581;ENST00000542225	T;T;T;T;T	0.78126	-0.09;-0.09;-0.12;-1.15;0.08	5.74	5.74	0.90152	.	0.311125	0.36740	N	0.002439	T	0.81555	0.4847	L	0.27053	0.805	0.80722	D	1	D;P	0.89917	1.0;0.937	D;B	0.87578	0.998;0.403	T	0.79125	-0.1932	10	0.30078	T	0.28	-18.1856	17.6917	0.88270	0.0:0.0:1.0:0.0	.	146;146	Q96IU6;O43405	.;COCH_HUMAN	R	146;146;146;130;34;34	ENSP00000216361:G146R;ENSP00000379862:G146R;ENSP00000451528:G146R;ENSP00000452541:G130R;ENSP00000451713:G34R	ENSP00000216361:G146R	G	+	1	0	COCH	30418442	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.874000	0.69652	2.702000	0.92279	0.591000	0.81541	GGT		0.383	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086	Missense_Mutation	9	58	0	0	0	0.008291	0	9	58				
NOTCH3	4854	broad.mit.edu	37	19	15276316	15276316	+	Missense_Mutation	SNP	C	C	T	rs372834264		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:15276316C>T	ENST00000263388.2	-	31	5753	c.5678G>A	c.(5677-5679)cGa>cAa	p.R1893Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1893					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGAGCGGTTTCGGATGAGAAT	0.592																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5677-5679)cGa>cAa		notch 3		C	GLN/ARG	0,4406		0,0,2203	53.0	52.0	52.0		5678	4.9	1.0	19		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOTCH3	NM_000435.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1893/2322	15276316	1,13005	2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276316C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5678G>A	19.37:g.15276316C>T	ENSP00000263388:p.Arg1893Gln						p.R1893Q	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		31	5753	-			1893					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5678G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470380	0.84533	0.0	1.16E-4	ENSG00000074181	ENST00000263388	T	0.63744	-0.06	4.9	4.9	0.64082	Ankyrin repeat-containing domain (4);	0.000000	0.30201	N	0.010173	T	0.67040	0.2851	N	0.17594	0.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.71777	-0.4490	10	0.59425	D	0.04	.	17.02	0.86431	0.0:1.0:0.0:0.0	.	1893	Q9UM47	NOTC3_HUMAN	Q	1893	ENSP00000263388:R1893Q	ENSP00000263388:R1893Q	R	-	2	0	NOTCH3	15137316	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	7.176000	0.77643	2.560000	0.86352	0.561000	0.74099	CGA		0.592	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		6	22	0	0	0	0.001168	0	6	22				
POLR1A	25885	broad.mit.edu	37	2	86267597	86267597	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:86267597C>T	ENST00000263857.6	-	25	4036	c.3658G>A	c.(3658-3660)Gga>Aga	p.G1220R	POLR1A_ENST00000409681.1_Missense_Mutation_p.G1220R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1220					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGGGCTCTCCGATGCTCTGG	0.627																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(3658-3660)Gga>Aga		polymerase (RNA) I polypeptide A, 194kDa							50.0	61.0	57.0					2																	86267597		2079	4238	6317	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86267597C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3658G>A	2.37:g.86267597C>T	ENSP00000263857:p.Gly1220Arg					POLR1A_ENST00000409681.1_Missense_Mutation_p.G1220R	p.G1220R			O95602	RPA1_HUMAN			25	4036	-			1220					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.3658G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562819	0.86335	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.87491	-2.26;-2.26	5.57	5.57	0.84162	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.96442	0.8839	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97715	1.0193	10	0.87932	D	0	-29.3309	19.557	0.95354	0.0:1.0:0.0:0.0	.	586;1220	B7Z8X7;O95602	.;RPA1_HUMAN	R	1220	ENSP00000263857:G1220R;ENSP00000386300:G1220R	ENSP00000263857:G1220R	G	-	1	0	POLR1A	86121108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.630000	0.89119	0.655000	0.94253	GGA		0.627	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		11	41	0	0	0	0.008291	0	11	41				
C17orf74	201243	broad.mit.edu	37	17	7329885	7329885	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7329885C>T	ENST00000333870.3	+	3	649	c.575C>T	c.(574-576)cCc>cTc	p.P192L	C17orf74_ENST00000574034.1_Silent_p.A79A|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	192						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GACAACCTGCCCTTCCCGTAT	0.597																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(574-576)cCc>cTc		chromosome 17 open reading frame 74							126.0	131.0	129.0					17																	7329885		1990	4147	6137	SO:0001583	missense	201243					integral to membrane		g.chr17:7329885C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.575C>T	17.37:g.7329885C>T	ENSP00000328061:p.Pro192Leu					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.A79A	p.P192L	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	649	+		Prostate(122;0.157)	192						Missense_Mutation	SNP	ENST00000333870.3	37	c.575C>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185268	0.21870	.	.	ENSG00000184560	ENST00000333870	T	0.30448	1.53	3.94	1.68	0.24146	.	1.914000	0.02945	N	0.140952	T	0.20251	0.0487	N	0.14661	0.345	0.09310	N	1	B	0.24721	0.11	B	0.22601	0.04	T	0.22103	-1.0226	10	0.48119	T	0.1	-19.3749	6.064	0.19854	0.2188:0.5688:0.2124:0.0	.	192	Q0P670	CQ074_HUMAN	L	192	ENSP00000328061:P192L	ENSP00000328061:P192L	P	+	2	0	C17orf74	7270609	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.048000	0.30379	0.957000	0.37930	0.491000	0.48974	CCC		0.597	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		33	157	0	0	0	0.013726	0	33	157				
FRAS1	80144	broad.mit.edu	37	4	79403007	79403007	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:79403007C>T	ENST00000264895.6	+	57	8933	c.8493C>T	c.(8491-8493)ttC>ttT	p.F2831F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2827	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTCTACTTTCGCATCTGTCT	0.493																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8491-8493)ttC>ttT		Fraser syndrome 1							197.0	200.0	199.0					4																	79403007		1930	4131	6061	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403007C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8493C>T	4.37:g.79403007C>T							p.F2831F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			57	8933	+			2826			Calx-beta 3.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.8493C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	4.656	0.121945	0.08931	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.57	2.85	0.33270	.	.	.	.	.	T	0.54175	0.1842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46610	-0.9179	4	.	.	.	.	5.8211	0.18528	0.0:0.5948:0.1305:0.2747	.	.	.	.	C	1060	.	.	R	+	1	0	FRAS1	79622031	0.939000	0.31865	0.995000	0.50966	0.410000	0.31052	0.338000	0.19858	0.687000	0.31509	0.650000	0.86243	CGC		0.493	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				63	180	0	0	0	0.014410	0	63	180				
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:125861042A>T	ENST00000373647.4	+	23	2916	c.2782A>T	c.(2782-2784)Aaa>Taa	p.K928*	RABGAP1_ENST00000373643.5_Nonsense_Mutation_p.K267*	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	928					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATCTGAGATTAAAAAAAACAG	0.398																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(2782-2784)Aaa>Taa		RAB GTPase activating protein 1							90.0	94.0	93.0					9																	125861042		2203	4300	6503	SO:0001587	stop_gained	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125861042A>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2782A>T	9.37:g.125861042A>T	ENSP00000362751:p.Lys928*					RABGAP1_ENST00000373643.5_Nonsense_Mutation_p.K267*	p.K928*	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			23	2916	+			928					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Nonsense_Mutation	SNP	ENST00000373647.4	37	c.2782A>T	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	A	40	8.040818	0.98624	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	.	.	.	5.22	5.22	0.72569	.	0.108853	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1277	15.2676	0.73675	1.0:0.0:0.0:0.0	.	.	.	.	X	928;267	.	ENSP00000362747:K267X	K	+	1	0	RABGAP1	124900863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.158000	0.89649	2.193000	0.70182	0.533000	0.62120	AAA		0.398	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		10	30	0	0	0	0.010729	0	10	30				
ZNF79	7633	broad.mit.edu	37	9	130206706	130206706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:130206706C>T	ENST00000342483.5	+	5	1133	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	ZNF79_ENST00000543471.1_Missense_Mutation_p.H219Y	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCAGAGGATTCACACTGGAGA	0.537																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(727-729)Cac>Tac		zinc finger protein 79							83.0	80.0	81.0					9																	130206706		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206706C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.727C>T	9.37:g.130206706C>T	ENSP00000362446:p.His243Tyr					ZNF79_ENST00000543471.1_Missense_Mutation_p.H219Y	p.H243Y	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1133	+			243					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.727C>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986623	0.74589	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	D;D	0.88896	-2.44;-2.44	3.83	3.83	0.44106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95784	0.8628	H	0.95365	3.66	0.46203	D	0.998929	D	0.76494	0.999	D	0.87578	0.998	D	0.96744	0.9549	9	0.87932	D	0	.	13.286	0.60243	0.0:1.0:0.0:0.0	.	243	Q15937	ZNF79_HUMAN	Y	243;219	ENSP00000362446:H243Y;ENSP00000438418:H219Y	ENSP00000362446:H243Y	H	+	1	0	ZNF79	129246527	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.843000	0.75384	1.973000	0.57446	0.655000	0.94253	CAC		0.537	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		15	59	0	0	0	0.002450	0	15	59				
SYNE1	23345	broad.mit.edu	37	6	152763311	152763311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:152763311C>T	ENST00000367255.5	-	31	4508	c.3907G>A	c.(3907-3909)Gaa>Aaa	p.E1303K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1369K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1293K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1303K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1303K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1303					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCCCCCCTTCTCCCTGCTGC	0.582										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3907-3909)Gaa>Aaa		spectrin repeat containing, nuclear envelope 1							73.0	66.0	69.0					6																	152763311		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763311C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3907G>A	6.37:g.152763311C>T	ENSP00000356224:p.Glu1303Lys	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.E1303K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1293K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1369K	p.E1303K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4508	-		Ovarian(120;0.0955)	1303					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3907G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375679	0.42105	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88354	0.62;0.61;0.53;0.61;0.71;-2.16;-2.37;-2.36	5.41	5.41	0.78517	.	0.112562	0.38436	N	0.001686	D	0.88198	0.6372	M	0.64997	1.995	0.80722	D	1	P;P;P;P;P;P	0.49862	0.856;0.611;0.852;0.929;0.611;0.73	B;B;B;P;B;B	0.51079	0.129;0.159;0.281;0.658;0.159;0.302	D	0.85137	0.0978	10	0.16420	T	0.52	.	19.5512	0.95322	0.0:1.0:0.0:0.0	.	1286;1303;1293;1303;1303;1310	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	K	1303;1310;1303;1310;1369;1303;1293;1303	ENSP00000356224:E1303K;ENSP00000396024:E1310K;ENSP00000265368:E1303K;ENSP00000390975:E1310K;ENSP00000341887:E1369K;ENSP00000356222:E1303K;ENSP00000356217:E1293K;ENSP00000414510:E1303K	ENSP00000265368:E1303K	E	-	1	0	SYNE1	152805004	1.000000	0.71417	0.361000	0.25849	0.124000	0.20399	6.309000	0.72825	2.685000	0.91497	0.650000	0.86243	GAA		0.582	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	60	0	0	0	0.008871	0	18	60				
FLG	2312	broad.mit.edu	37	1	152279854	152279854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:152279854G>A	ENST00000368799.1	-	3	7543	c.7508C>T	c.(7507-7509)gCc>gTc	p.A2503V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2503	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGGGAGGCATCAGACCT	0.547									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7507-7509)gCc>gTc		filaggrin							340.0	326.0	331.0					1																	152279854		2203	4299	6502	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279854G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7508C>T	1.37:g.152279854G>A	ENSP00000357789:p.Ala2503Val					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A2503V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7543	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2503			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7508C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060894	0.19987	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	2.34	1.39	0.22231	.	.	.	.	.	T	0.00784	0.0026	M	0.81802	2.56	0.09310	N	1	P	0.41232	0.743	B	0.31390	0.129	T	0.47674	-0.9099	9	0.27082	T	0.32	.	4.7738	0.13169	0.1941:0.0:0.8059:0.0	.	2503	P20930	FILA_HUMAN	V	2503	ENSP00000357789:A2503V	ENSP00000357789:A2503V	A	-	2	0	FLG	150546478	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.116000	0.15561	0.310000	0.22990	0.306000	0.20318	GCC		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		183	353	0	0	0	0.014410	0	183	353				
DOK6	220164	broad.mit.edu	37	18	67365664	67365664	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:67365664C>G	ENST00000382713.5	+	5	624	c.434C>G	c.(433-435)cCt>cGt	p.P145R	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	145	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TATCTTATGCCTACACCAAAC	0.398																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(433-435)cCt>cGt		docking protein 6							124.0	110.0	114.0					18																	67365664		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67365664C>G	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.434C>G	18.37:g.67365664C>G	ENSP00000372160:p.Pro145Arg					DOK6_ENST00000584435.1_3'UTR	p.P145R	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			5	624	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	145			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.434C>G	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902062	0.52227	.	.	ENSG00000206052	ENST00000382713	D	0.83419	-1.72	5.89	5.89	0.94794	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.84968	0.0881	10	0.22109	T	0.4	-26.9366	19.2242	0.93812	0.0:1.0:0.0:0.0	.	145	Q6PKX4	DOK6_HUMAN	R	145	ENSP00000372160:P145R	ENSP00000372160:P145R	P	+	2	0	DOK6	65516644	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.706000	0.84615	2.791000	0.96007	0.591000	0.81541	CCT		0.398	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		11	37	0	0	0	0.010729	0	11	37				
STXBP2	6813	broad.mit.edu	37	19	7708073	7708073	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:7708073C>G	ENST00000221283.5	+	13	1080	c.1049C>G	c.(1048-1050)gCa>gGa	p.A350G	STXBP2_ENST00000414284.2_Missense_Mutation_p.A347G|STXBP2_ENST00000441779.2_Missense_Mutation_p.A361G|STXBP2_ENST00000602355.1_5'Flank	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	350					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCATCTAGCAGATGATTGT	0.587																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1081-1083)gCa>gGa		syntaxin binding protein 2							91.0	74.0	80.0					19																	7708073		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7708073C>G	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1049C>G	19.37:g.7708073C>G	ENSP00000221283:p.Ala350Gly					STXBP2_ENST00000414284.2_Missense_Mutation_p.A347G|STXBP2_ENST00000221283.5_Missense_Mutation_p.A350G	p.A361G	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			13	1119	+			350					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1082C>G	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880317	0.51801	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.80653	-1.4;-1.4;-1.4	5.22	4.17	0.49024	.	0.123968	0.52532	D	0.000068	D	0.90686	0.7078	M	0.92026	3.265	0.80722	D	1	D;P;D;D	0.89917	1.0;0.956;1.0;1.0	D;D;D;D	0.87578	0.998;0.958;0.996;0.998	D	0.92037	0.5638	10	0.87932	D	0	-10.264	11.9174	0.52774	0.0:0.9127:0.0:0.0873	.	361;316;347;350	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	G	350;347;361;350	ENSP00000221283:A350G;ENSP00000409471:A347G;ENSP00000413606:A361G	ENSP00000221283:A350G	A	+	2	0	STXBP2	7614073	1.000000	0.71417	0.076000	0.20297	0.003000	0.03518	7.608000	0.82898	2.443000	0.82685	0.491000	0.48974	GCA		0.587	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		9	37	0	0	0	0.006214	0	9	37				
PLXNA1	5361	broad.mit.edu	37	3	126733043	126733043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:126733043C>T	ENST00000393409.2	+	11	2429	c.2429C>T	c.(2428-2430)cCg>cTg	p.P810L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.P787L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	810					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TACAAGTGCCCGGCCCTGCGC	0.736																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2428-2430)cCg>cTg		plexin A1							23.0	26.0	25.0					3																	126733043		2199	4292	6491	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126733043C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2429C>T	3.37:g.126733043C>T	ENSP00000377061:p.Pro810Leu					PLXNA1_ENST00000251772.4_Missense_Mutation_p.P787L	p.P810L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	11	2429	+			810						Missense_Mutation	SNP	ENST00000393409.2	37	c.2429C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590288	0.28357	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.48201	0.82;0.82	2.86	2.86	0.33363	.	0.295493	0.29093	N	0.013172	T	0.34077	0.0885	N	0.22421	0.69	0.47308	D	0.999388	B	0.25235	0.121	B	0.29942	0.109	T	0.15867	-1.0422	10	0.25751	T	0.34	.	13.5801	0.61898	0.0:1.0:0.0:0.0	.	810	Q9UIW2	PLXA1_HUMAN	L	810;787	ENSP00000377061:P810L;ENSP00000251772:P787L	ENSP00000251772:P787L	P	+	2	0	PLXNA1	128215733	0.881000	0.30235	0.984000	0.44739	0.921000	0.55340	2.220000	0.42908	1.908000	0.55244	0.486000	0.48141	CCG		0.736	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	25	0	0	0	0.001168	0	6	25				
SENP1	29843	broad.mit.edu	37	12	48477537	48477537	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:48477537G>C	ENST00000004980.5	-	6	867	c.389C>G	c.(388-390)tCa>tGa	p.S130*	SENP1_ENST00000448372.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Nonsense_Mutation_p.S130*|RNU6-1203P_ENST00000410703.1_RNA			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	130	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAAACTGTTTGATAATCCACT	0.313																																						ENST00000004980.5																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(388-390)tCa>tGa		SUMO1/sentrin specific peptidase 1							86.0	82.0	83.0					12																	48477537		1820	4081	5901	SO:0001587	stop_gained	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48477537G>C	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.389C>G	12.37:g.48477537G>C	ENSP00000004980:p.Ser130*					SENP1_ENST00000549518.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000448372.1_Nonsense_Mutation_p.S130*	p.S130*			Q9P0U3	SENP1_HUMAN			6	867	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	130			Ser-rich.		A8K7P5|Q86XC8	Nonsense_Mutation	SNP	ENST00000004980.5	37	c.389C>G	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157197	0.38119	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518;ENST00000551798	.	.	.	4.67	3.78	0.43462	.	0.244492	0.28748	N	0.014275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.3998	9.2683	0.37654	0.1661:0.0:0.8339:0.0	.	.	.	.	X	130;130;130;130;130;123	.	ENSP00000004980:S130X	S	-	2	0	SENP1	46763804	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.291000	0.51764	1.354000	0.45846	-0.136000	0.14681	TCA		0.313	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		10	37	0	0	0	0.010729	0	10	37				
NUTM1	256646	broad.mit.edu	37	15	34649168	34649168	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:34649168G>T	ENST00000333756.4	+	7	3030	c.2875G>T	c.(2875-2877)Ggg>Tgg	p.G959W	NUTM1_ENST00000438749.3_Missense_Mutation_p.G977W|NUTM1_ENST00000537011.1_Missense_Mutation_p.G987W	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	959						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTACACAACTGGGACTCCCAA	0.483																																						ENST00000537011.1																			0											c.(2959-2961)Ggg>Tgg		NUT midline carcinoma, family member 1							56.0	52.0	54.0					15																	34649168		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34649168G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2875G>T	15.37:g.34649168G>T	ENSP00000329448:p.Gly959Trp					NUTM1_ENST00000438749.3_Missense_Mutation_p.G977W|NUTM1_ENST00000333756.4_Missense_Mutation_p.G959W	p.G987W							8	3341	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2959G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.766125	0.31228	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08634	3.09;3.07;3.09	5.3	0.076	0.14401	.	1.246570	0.05472	N	0.553338	T	0.19167	0.0460	L	0.55481	1.735	0.09310	N	1	B;P;D	0.63046	0.397;0.532;0.992	B;B;P	0.58577	0.194;0.356;0.841	T	0.27905	-1.0060	10	0.66056	D	0.02	.	8.0834	0.30758	0.4352:0.0:0.5648:0.0	.	977;987;959	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	W	987;977;959	ENSP00000444896:G987W;ENSP00000407031:G977W;ENSP00000329448:G959W	ENSP00000329448:G959W	G	+	1	0	C15orf55	32436460	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.077000	0.11394	0.093000	0.17368	0.655000	0.94253	GGG		0.483	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		15	26	1	0	4.93089e-13	0.002450	5.52762e-13	15	26				
LOC440040	440040	broad.mit.edu	37	11	49831788	49831788	+	RNA	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:49831788C>T	ENST00000527477.1	+	0	2013																											CTGTATTCATCTCTGACCAGA	0.433																																						ENST00000527477.1																			0																																																			440040							g.chr11:49831788C>T																													11.37:g.49831788C>T														0	2013	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.433	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			17	202	0	0	0	0.007413	0	17	202				
SPTBN2	6712	broad.mit.edu	37	11	66488701	66488701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:66488701G>A	ENST00000533211.1	-	3	342	c.11C>T	c.(10-12)aCg>aTg	p.T4M	SPTBN2_ENST00000529997.1_Missense_Mutation_p.T4M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T4M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	4	Actin-binding.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGTGACAGCGTGCTGCTCAT	0.602																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(10-12)aCg>aTg		spectrin, beta, non-erythrocytic 2							195.0	154.0	168.0					11																	66488701		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66488701G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.11C>T	11.37:g.66488701G>A	ENSP00000432568:p.Thr4Met					SPTBN2_ENST00000529997.1_Missense_Mutation_p.T4M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T4M	p.T4M			O15020	SPTN2_HUMAN			3	342	-			4			Actin-binding.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.11C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088683	0.76756	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262;ENST00000527010	T;T;T;T	0.77620	-0.57;-0.57;-0.59;-1.11	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	N	0.00347	-1.61	0.48185	D	0.999601	P	0.42078	0.77	B	0.24394	0.053	T	0.56860	-0.7909	10	0.22109	T	0.4	.	14.6826	0.69028	0.0:0.0:1.0:0.0	.	4	O15020	SPTN2_HUMAN	M	4	ENSP00000432568:T4M;ENSP00000311489:T4M;ENSP00000433593:T4M;ENSP00000433631:T4M	ENSP00000311489:T4M	T	-	2	0	SPTBN2	66245277	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.286000	0.58995	2.278000	0.76064	0.561000	0.74099	ACG		0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		20	125	0	0	0	0.010504	0	20	125				
YME1L1	10730	broad.mit.edu	37	10	27423860	27423860	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:27423860G>A	ENST00000326799.3	-	7	910	c.762C>T	c.(760-762)ctC>ctT	p.L254L	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Silent_p.L164L|YME1L1_ENST00000376016.3_Silent_p.L197L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	254					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGTTTTCATGAGTTTGTCCA	0.393																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(760-762)ctC>ctT		YME1-like 1 ATPase							109.0	103.0	105.0					10																	27423860		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27423860G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.762C>T	10.37:g.27423860G>A						YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Silent_p.L164L|YME1L1_ENST00000376016.3_Silent_p.L197L	p.L254L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			7	910	-			254					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.762C>T	CCDS7152.1																																																																																				0.393	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		14	37	0	0	0	0.001855	0	14	37				
NIPBL	25836	broad.mit.edu	37	5	37048678	37048678	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:37048678G>C	ENST00000282516.8	+	39	7163	c.6664G>C	c.(6664-6666)Gat>Cat	p.D2222H	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2222H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2222					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TATTTTATCTGATAAGAACTC	0.363																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6664-6666)Gat>Cat		Nipped-B homolog (Drosophila)							38.0	44.0	42.0					5																	37048678		2184	4285	6469	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37048678G>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6664G>C	5.37:g.37048678G>C	ENSP00000282516:p.Asp2222His					NIPBL_ENST00000448238.2_Missense_Mutation_p.D2222H	p.D2222H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		39	7163	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2222					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6664G>C	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172493	0.78452	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93763	-3.28;-3.28	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.044331	0.85682	D	0.000000	D	0.95752	0.8618	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.989;0.996	P;D	0.64877	0.854;0.93	D	0.94955	0.8103	10	0.52906	T	0.07	-16.5631	20.6397	0.99537	0.0:0.0:1.0:0.0	.	2222;2222	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	2222	ENSP00000282516:D2222H;ENSP00000406266:D2222H	ENSP00000282516:D2222H	D	+	1	0	NIPBL	37084435	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.439000	0.97543	2.880000	0.98712	0.650000	0.86243	GAT		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		13	37	0	0	0	0.001855	0	13	37				
CACNA1D	776	broad.mit.edu	37	3	53757958	53757958	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:53757958T>A	ENST00000350061.5	+	14	2543	c.2032T>A	c.(2032-2034)Ttt>Att	p.F678I	CACNA1D_ENST00000288139.4_Missense_Mutation_p.F698I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.F678I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	678					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAGTTTAATTTTGATGAAAC	0.463																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2092-2094)Ttt>Att		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						136.0	126.0	129.0					3																	53757958		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757958T>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2032T>A	3.37:g.53757958T>A	ENSP00000288133:p.Phe678Ile					CACNA1D_ENST00000422281.2_Missense_Mutation_p.F678I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.F678I	p.F698I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2210	+			678					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2092T>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	33	5.255831	0.95336	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;0.997;1.0	D;D;D;D	0.81914	0.995;0.942;0.976;0.991	D	0.99793	1.1032	10	0.87932	D	0	.	16.4416	0.83903	0.0:0.0:0.0:1.0	.	678;371;678;698	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	I	678;698;678;371	ENSP00000288133:F678I;ENSP00000288139:F698I;ENSP00000409174:F678I;ENSP00000418014:F371I	ENSP00000288139:F698I	F	+	1	0	CACNA1D	53732998	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	8.040000	0.89188	2.285000	0.76669	0.477000	0.44152	TTT		0.463	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		15	39	0	0	0	0.002450	0	15	39				
RALGDS	5900	broad.mit.edu	37	9	135984211	135984211	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:135984211C>T	ENST00000372050.3	-	5	648	c.627G>A	c.(625-627)tcG>tcA	p.S209S	RALGDS_ENST00000542690.1_Silent_p.S280S|RALGDS_ENST00000372062.3_Silent_p.S180S|RALGDS_ENST00000393160.3_Silent_p.S154S|RALGDS_ENST00000393157.3_Silent_p.S208S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.S197S	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	209	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGAAATCCTCCGAGTACTGGT	0.647			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(460-462)tcG>tcA		ral guanine nucleotide dissociation stimulator							74.0	63.0	67.0					9																	135984211		2203	4299	6502	SO:0001819	synonymous_variant	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135984211C>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.627G>A	9.37:g.135984211C>T						RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.S197S|RALGDS_ENST00000542690.1_Silent_p.S280S|RALGDS_ENST00000372050.3_Silent_p.S209S|RALGDS_ENST00000372062.3_Silent_p.S180S|RALGDS_ENST00000393157.3_Silent_p.S208S	p.S154S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	5	815	-			209			N-terminal Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000372050.3	37	c.462G>A	CCDS6959.1																																																																																				0.647	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		5	33	0	0	0	0.000602	0	5	33				
MGAT3	4248	broad.mit.edu	37	22	39883764	39883764	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:39883764G>A	ENST00000341184.6	+	2	627	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	138					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGAGAAGCCTGAGGGGGCCAA	0.741																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(412-414)Gag>Aag		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							3.0	5.0	4.0					22																	39883764		1839	3707	5546	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883764G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.412G>A	22.37:g.39883764G>A	ENSP00000345270:p.Glu138Lys						p.E138K	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	627	+	Melanoma(58;0.04)		138					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.412G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	7.973	0.749481	0.15778	.	.	ENSG00000128268	ENST00000341184;ENST00000429402	.	.	.	5.03	1.65	0.23941	.	0.572712	0.15962	N	0.236200	T	0.18509	0.0444	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14531	-1.0469	9	0.48119	T	0.1	.	4.8177	0.13374	0.2492:0.0:0.6037:0.1472	.	138	Q09327	MGAT3_HUMAN	K	138	.	ENSP00000345270:E138K	E	+	1	0	MGAT3	38213710	0.981000	0.34729	0.001000	0.08648	0.104000	0.19210	4.395000	0.59678	0.460000	0.27045	0.467000	0.42956	GAG		0.741	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		4	11	0	0	0	0.009096	0	4	11				
SLC6A20	54716	broad.mit.edu	37	3	45804560	45804560	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:45804560C>G	ENST00000358525.4	-	9	1423	c.1308G>C	c.(1306-1308)ctG>ctC	p.L436L	SLC6A20_ENST00000456124.2_Silent_p.L436L|SLC6A20_ENST00000353278.4_Silent_p.L399L|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	436					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAAGGCACACCAGACCTGGGG	0.592																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1306-1308)ctG>ctC		solute carrier family 6 (proline IMINO transporter), member 20							140.0	112.0	121.0					3																	45804560		2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45804560C>G	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1308G>C	3.37:g.45804560C>G						SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000456124.2_Silent_p.L436L|SLC6A20_ENST00000353278.4_Silent_p.L399L	p.L436L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	9	1423	-			436					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.1308G>C	CCDS43077.1																																																																																				0.592	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		13	55	0	0	0	0.004007	0	13	55				
KCNJ12	3768	broad.mit.edu	37	17	21318895	21318895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:21318895C>T	ENST00000583088.1	+	3	1136	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81W	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	81					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R81G(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CATCCGCTGGCGGTACATGCT	0.577										Prostate(3;0.18)																												ENST00000583088.1																			1	Substitution - Missense(1)	p.R81G(1)	lung(1)	NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(241-243)Cgg>Tgg		potassium inwardly-rectifying channel, subfamily J, member 12							205.0	126.0	153.0					17																	21318895		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21318895C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.241C>T	17.37:g.21318895C>T	ENSP00000463778:p.Arg81Trp	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81W	p.R81W	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1136	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.241C>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843005	0.71488	.	.	ENSG00000184185	ENST00000331718	D	0.96011	-3.88	5.33	4.31	0.51392	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98223	1.0479	10	0.87932	D	0	.	10.7711	0.46323	0.4271:0.5729:0.0:0.0	.	81	Q14500	IRK12_HUMAN	W	81	ENSP00000328150:R81W	ENSP00000328150:R81W	R	+	1	2	KCNJ12	21259488	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.669000	0.46825	2.506000	0.84524	0.591000	0.81541	CGG		0.577	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		9	89	0	0	0	0.006214	0	9	89				
NDN	4692	broad.mit.edu	37	15	23932088	23932088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:23932088G>A	ENST00000331837.4	-	1	362	c.277C>T	c.(277-279)Cca>Tca	p.P93S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	93					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGGGGCTGGCGGTGCCGGG	0.697									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(277-279)Cca>Tca		necdin, melanoma antigen (MAGE) family member							22.0	23.0	22.0					15																	23932088		2202	4293	6495	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932088G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.277C>T	15.37:g.23932088G>A	ENSP00000332643:p.Pro93Ser						p.P93S	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	362	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	93					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.277C>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541488	0.27563	.	.	ENSG00000182636	ENST00000331837	T	0.02067	4.47	3.63	3.63	0.41609	.	0.497191	0.19284	N	0.118084	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	P	0.37781	0.608	B	0.27500	0.08	T	0.46803	-0.9165	10	0.07175	T	0.84	.	11.5379	0.50648	0.0:0.0:1.0:0.0	.	93	Q99608	NECD_HUMAN	S	93	ENSP00000332643:P93S	ENSP00000332643:P93S	P	-	1	0	NDN	21483181	0.968000	0.33430	0.064000	0.19789	0.011000	0.07611	1.452000	0.35156	1.963000	0.57068	0.655000	0.94253	CCA		0.697	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		8	31	0	0	0	0.006214	0	8	31				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	44	0	0	0	0.013537	0	12	44				
ZNF300	91975	broad.mit.edu	37	5	150276445	150276445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:150276445C>T	ENST00000274599.5	-	6	776	c.356G>A	c.(355-357)gGt>gAt	p.G119D	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.G135D|ZNF300_ENST00000418587.2_Missense_Mutation_p.G83D|ZNF300_ENST00000394226.2_Missense_Mutation_p.G119D	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	119					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)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAATGAACCATCCCTTGT	0.413																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(403-405)gGt>gAt		zinc finger protein 300							90.0	84.0	86.0					5																	150276445		2203	4299	6502	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276445C>T	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.356G>A	5.37:g.150276445C>T	ENSP00000274599:p.Gly119Asp					ZNF300_ENST00000394226.2_Missense_Mutation_p.G119D|ZNF300_ENST00000274599.5_Missense_Mutation_p.G119D|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.G83D	p.G135D	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	831	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	119					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.404G>A	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	0.137	-1.106470	0.01828	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07908	3.22;3.23;3.15;3.22	2.32	-0.503	0.12000	.	.	.	.	.	T	0.03608	0.0103	N	0.11064	0.09	0.25226	N	0.989864	B	0.02656	0.0	B	0.01281	0.0	T	0.48139	-0.9061	9	0.11794	T	0.64	.	6.456	0.21930	0.0:0.6066:0.0:0.3934	.	119	Q96RE9	ZN300_HUMAN	D	135;119;83;119	ENSP00000397178:G135D;ENSP00000274599:G119D;ENSP00000392593:G83D;ENSP00000377773:G119D	ENSP00000274599:G119D	G	-	2	0	ZNF300	150256638	0.001000	0.12720	0.996000	0.52242	0.823000	0.46562	-0.155000	0.10115	-0.160000	0.11002	0.455000	0.32223	GGT		0.413	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		26	24	0	0	0	0.003330	0	26	24				
TUBB4A	10382	broad.mit.edu	37	19	6495873	6495873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:6495873G>A	ENST00000264071.2	-	4	1008	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R213C			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	213					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										TTGAGGGTGCGGAAACAGATG	0.627																																						ENST00000264071.2																			0											c.(637-639)Cgc>Tgc		tubulin, beta 4A class IVa							211.0	148.0	169.0					19																	6495873		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495873G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.637C>T	19.37:g.6495873G>A	ENSP00000264071:p.Arg213Cys					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R213C	p.R213C			P04350	TBB4_HUMAN			4	1008	-			213					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.637C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012353	0.54468	.	.	ENSG00000104833	ENST00000264071;ENST00000540257	T;T	0.70282	-0.47;-0.47	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000004	D	0.87289	0.6140	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91095	0.4910	10	0.87932	D	0	.	14.999	0.71455	0.0:0.0:1.0:0.0	.	213	P04350	TBB4A_HUMAN	C	213	ENSP00000264071:R213C;ENSP00000443590:R213C	ENSP00000264071:R213C	R	-	1	0	TUBB4	6446873	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.708000	0.84633	1.795000	0.52594	0.549000	0.68633	CGC		0.627	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		31	105	0	0	0	0.008361	0	31	105				
MYH11	4629	broad.mit.edu	37	16	15832485	15832485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:15832485C>T	ENST00000300036.5	-	24	3167	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	MYH11_ENST00000396324.3_Missense_Mutation_p.E1027K|MYH11_ENST00000576790.2_Missense_Mutation_p.E1020K|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.E1027K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1020					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGGCCTTTTCTTCCTCTTCT	0.358			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(3058-3060)Gaa>Aaa		myosin, heavy chain 11, smooth muscle							165.0	153.0	157.0					16																	15832485		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15832485C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3058G>A	16.37:g.15832485C>T	ENSP00000300036:p.Glu1020Lys					MYH11_ENST00000396324.3_Missense_Mutation_p.E1027K|MYH11_ENST00000452625.2_Missense_Mutation_p.E1027K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1020K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1020K	p.E1020K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			24	3164	-			1020					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3058G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863339	0.91511	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	4.3	4.3	0.51218	.	0.124722	0.53938	D	0.000050	D	0.92257	0.7544	M	0.79926	2.475	0.80722	D	1	P;B;B;B;B	0.41643	0.758;0.082;0.082;0.082;0.198	P;B;B;B;B	0.49451	0.611;0.26;0.26;0.26;0.362	D	0.93769	0.7073	10	0.87932	D	0	.	16.1203	0.81346	0.0:1.0:0.0:0.0	.	1027;1020;1027;1020;1027	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1020;1020;1027;1027;1027	ENSP00000300036:E1020K;ENSP00000345136:E1020K;ENSP00000379616:E1027K;ENSP00000407821:E1027K	ENSP00000300036:E1020K	E	-	1	0	MYH11	15739986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.117000	0.64856	0.555000	0.69702	GAA		0.358	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		12	71	0	0	0	0.001855	0	12	71				
COG5	10466	broad.mit.edu	37	7	107204296	107204296	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:107204296G>C	ENST00000347053.3	-	1	189	c.139C>G	c.(139-141)Cga>Gga	p.R47G	DUS4L_ENST00000265720.3_5'Flank|COG5_ENST00000297135.3_Missense_Mutation_p.R47G|DUS4L_ENST00000498786.1_Intron|COG5_ENST00000393603.2_Missense_Mutation_p.R47G|DUS4L_ENST00000402620.1_5'Flank	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	47					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCAGAGCCTCGAGCTCCGAGG	0.667																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(139-141)Cga>Gga		component of oligomeric golgi complex 5							33.0	34.0	33.0					7																	107204296		2193	4285	6478	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107204296G>C	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.139C>G	7.37:g.107204296G>C	ENSP00000334703:p.Arg47Gly					COG5_ENST00000297135.3_Missense_Mutation_p.R47G|COG5_ENST00000347053.3_Missense_Mutation_p.R47G|DUS4L_ENST00000498786.1_Intron	p.R47G	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			1	410	-			47					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.139C>G	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	2.922	-0.223080	0.06061	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.17370	2.29;2.28;2.28	5.41	1.21	0.21127	.	1.732920	0.02949	N	0.141519	T	0.10078	0.0247	N	0.08118	0	0.09310	N	0.999995	B;B	0.06786	0.001;0.001	B;B	0.12156	0.003;0.007	T	0.29640	-1.0005	10	0.21014	T	0.42	12.3555	8.2536	0.31741	0.0889:0.459:0.4521:0.0	.	47;47	Q9UP83;Q9UP83-2	COG5_HUMAN;.	G	47	ENSP00000334703:R47G;ENSP00000297135:R47G;ENSP00000377228:R47G	ENSP00000297135:R47G	R	-	1	2	COG5	106991532	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.031000	0.13710	0.354000	0.24105	0.591000	0.81541	CGA		0.667	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			28	50	0	0	0	0.010818	0	28	50				
SIX6	4990	broad.mit.edu	37	14	60976681	60976681	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:60976681A>T	ENST00000327720.5	+	1	1013	c.565A>T	c.(565-567)Aag>Tag	p.K189*		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	189					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGCTGCAGCCAAGAACAGGTC	0.647																																						ENST00000327720.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11						c.(565-567)Aag>Tag		SIX homeobox 6							12.0	13.0	13.0					14																	60976681		2196	4291	6487	SO:0001587	stop_gained	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60976681A>T	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.565A>T	14.37:g.60976681A>T	ENSP00000328596:p.Lys189*						p.K189*	NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	1	1013	+			189					Q6NT42|Q9P1X8	Nonsense_Mutation	SNP	ENST00000327720.5	37	c.565A>T	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	A	41	8.846025	0.98976	.	.	ENSG00000184302	ENST00000327720	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9764	0.71277	1.0:0.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000328596:K189X	K	+	1	0	SIX6	60046434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.317000	0.78254	0.460000	0.39030	AAG		0.647	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			6	12	0	0	0	0.001168	0	6	12				
BCAS1	8537	broad.mit.edu	37	20	52609131	52609131	+	Intron	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:52609131T>A	ENST00000395961.3	-	6	1094				BCAS1_ENST00000434986.2_Missense_Mutation_p.I41F|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.I328F	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTAGCCTGGATCTCGGATGTC	0.453																																						ENST00000371440.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(982-984)Atc>Ttc		breast carcinoma amplified sequence 1							71.0	62.0	65.0					20																	52609131		876	1991	2867	SO:0001627	intron_variant	8537					cytoplasm	protein binding	g.chr20:52609131T>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.927+2419A>T	20.37:g.52609131T>A						BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Missense_Mutation_p.I41F|BCAS1_ENST00000395961.3_Intron	p.I328F			O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		7	1319	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		309					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.982A>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	T	8.969	0.972451	0.18736	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000434986	T;T;T	0.08370	3.1;3.1;3.1	5.7	-0.73	0.11154	.	.	.	.	.	T	0.06188	0.0160	.	.	.	0.09310	N	0.999999	B;B	0.33135	0.372;0.399	B;B	0.31751	0.061;0.135	T	0.35251	-0.9796	8	0.51188	T	0.08	3.1899	6.0671	0.19870	0.1598:0.5058:0.0:0.3344	.	41;328	B4DFL4;O75363-2	.;.	F	190;328;41	ENSP00000396361:I190F;ENSP00000360495:I328F;ENSP00000409956:I41F	ENSP00000360495:I328F	I	-	1	0	BCAS1	52042538	0.034000	0.19679	0.002000	0.10522	0.205000	0.24178	0.080000	0.14802	-0.100000	0.12241	-0.250000	0.11733	ATC		0.453	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		8	36	0	0	0	0.003080	0	8	36				
SSH3	54961	broad.mit.edu	37	11	67077772	67077772	+	Nonsense_Mutation	SNP	G	G	T	rs148598265		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67077772G>T	ENST00000308127.4	+	13	1823	c.1645G>T	c.(1645-1647)Gag>Tag	p.E549*	SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	549					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCTCCTTGGAGCTGGAGAG	0.632																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1645-1647)Gag>Tag		slingshot protein phosphatase 3							54.0	59.0	57.0					11																	67077772		2200	4295	6495	SO:0001587	stop_gained	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67077772G>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1645G>T	11.37:g.67077772G>T	ENSP00000312081:p.Glu549*					SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	p.E549*	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1823	+			549					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Nonsense_Mutation	SNP	ENST00000308127.4	37	c.1645G>T	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	37	6.506505	0.97620	.	.	ENSG00000172830	ENST00000308127	.	.	.	3.93	3.93	0.45458	.	0.474047	0.15329	N	0.268121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-23.2918	11.677	0.51436	0.0:0.0:1.0:0.0	.	.	.	.	X	549	.	ENSP00000312081:E549X	E	+	1	0	SSH3	66834348	0.671000	0.27521	0.626000	0.29213	0.709000	0.40893	4.538000	0.60650	2.225000	0.72522	0.555000	0.69702	GAG		0.632	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		13	188	1	0	4.3838e-07	0.001855	4.82218e-07	13	188				
DNAH11	8701	broad.mit.edu	37	7	21646281	21646281	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:21646281T>C	ENST00000409508.3	+	20	3813	c.3782T>C	c.(3781-3783)tTc>tCc	p.F1261S	DNAH11_ENST00000328843.6_Missense_Mutation_p.F1261S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1261	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGGCAGAGTTCAGAGAGAGA	0.338									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3781-3783)tTc>tCc		dynein, axonemal, heavy chain 11							78.0	71.0	73.0					7																	21646281		1835	4097	5932	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21646281T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3782T>C	7.37:g.21646281T>C	ENSP00000475939:p.Phe1261Ser					DNAH11_ENST00000409508.3_Missense_Mutation_p.F1261S	p.F1261S			Q96DT5	DYH11_HUMAN			20	3813	+			1261			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3782T>C		.	.	.	.	.	.	.	.	.	.	T	19.83	3.900536	0.72754	.	.	ENSG00000105877	ENST00000328843	T	0.22134	1.97	5.46	5.46	0.80206	.	0.120737	0.64402	D	0.000013	T	0.48732	0.1516	.	.	.	0.52501	D	0.999954	D	0.76494	0.999	D	0.83275	0.996	T	0.53394	-0.8445	9	0.87932	D	0	.	15.2118	0.73230	0.0:0.0:0.0:1.0	.	1261	Q96DT5	DYH11_HUMAN	S	1261	ENSP00000330671:F1261S	ENSP00000330671:F1261S	F	+	2	0	DNAH11	21612806	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.360000	0.59455	2.067000	0.61834	0.533000	0.62120	TTC		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	10	0	0	0	0.009096	0	3	10				
SLC7A6OS	84138	broad.mit.edu	37	16	68344297	68344297	+	Silent	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:68344297A>G	ENST00000263997.6	-	2	430	c.412T>C	c.(412-414)Ttg>Ctg	p.L138L	PRMT7_ENST00000441236.1_5'Flank|snoU13_ENST00000458872.1_RNA|PRMT7_ENST00000449359.3_5'Flank|PRMT7_ENST00000348497.4_5'Flank|PRMT7_ENST00000339507.5_5'Flank	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	138					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AGGTCTAACAACTGAAAGCCC	0.627																																						ENST00000263997.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(412-414)Ttg>Ctg		solute carrier family 7, member 6 opposite strand							21.0	21.0	21.0					16																	68344297		2198	4300	6498	SO:0001819	synonymous_variant	84138				protein transport	cytoplasm|nucleus		g.chr16:68344297A>G		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.412T>C	16.37:g.68344297A>G							p.L138L	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)	2	430	-		Ovarian(137;0.192)	138					Q8TCZ3|Q9H8R8	Silent	SNP	ENST00000263997.6	37	c.412T>C	CCDS10865.1																																																																																				0.627	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		10	12	0	0	0	0.006214	0	10	12				
MAGEC1	9947	broad.mit.edu	37	X	140995473	140995473	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:140995473G>A	ENST00000285879.4	+	4	2569	c.2283G>A	c.(2281-2283)gaG>gaA	p.E761E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	761										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCCCTGAGAGTCCTCAGA	0.542										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2281-2283)gaG>gaA		melanoma antigen family C, 1							129.0	142.0	137.0					X																	140995473		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995473G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2283G>A	X.37:g.140995473G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.E761E	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2569	+	Acute lymphoblastic leukemia(192;6.56e-05)		761					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2283G>A	CCDS35417.1																																																																																				0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		82	238	0	0	0	0.014410	0	82	238				
EPHB6	2051	broad.mit.edu	37	7	142566409	142566409	+	Missense_Mutation	SNP	G	G	A	rs201556658		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:142566409G>A	ENST00000392957.2	+	15	2985	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q	EPHB6_ENST00000442129.1_Missense_Mutation_p.R733Q|EPHB6_ENST00000411471.2_Missense_Mutation_p.R456Q	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	733	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AACATCCTGCGGCTGGAGGGC	0.677																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(2197-2199)cGg>cAg		EPH receptor B6		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	32.0	35.0	34.0		2198	5.0	1.0	7		34	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPHB6	NM_004445.3	43	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	733/1022	142566409	2,13000	2201	4300	6501	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142566409G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2198G>A	7.37:g.142566409G>A	ENSP00000376684:p.Arg733Gln					EPHB6_ENST00000411471.2_Missense_Mutation_p.R456Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R733Q	p.R733Q	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			15	2985	+	Melanoma(164;0.059)		733			Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2198G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321263	0.81580	2.27E-4	1.16E-4	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.63580	-0.05;-0.05;-0.05	4.99	4.99	0.66335	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40144	N	0.001162	T	0.51363	0.1670	N	0.25380	0.74	0.38384	D	0.945229	D;D	0.69078	0.997;0.993	P;B	0.45428	0.48;0.222	T	0.60969	-0.7157	10	0.87932	D	0	.	10.7971	0.46466	0.0979:0.0:0.9021:0.0	.	733;456	O15197;O15197-2	EPHB6_HUMAN;.	Q	733;733;456	ENSP00000376684:R733Q;ENSP00000410789:R733Q;ENSP00000409061:R456Q	ENSP00000376684:R733Q	R	+	2	0	EPHB6	142276531	0.991000	0.36638	1.000000	0.80357	0.956000	0.61745	2.164000	0.42387	2.326000	0.78906	0.313000	0.20887	CGG		0.677	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			21	36	0	0	0	0.010504	0	21	36				
CAPZA3	93661	broad.mit.edu	37	12	18889205	18889205	+	5'Flank	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:18889205C>G	ENST00000317658.3	+	0	0				PLCZ1_ENST00000447925.2_Missense_Mutation_p.E27Q|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E29Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29Q|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27Q	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TCTAATTTTTCAAGTAACCTC	0.353																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(85-87)Gaa>Caa		phospholipase C, zeta 1							88.0	89.0	89.0					12																	18889205		2203	4300	6503	SO:0001631	upstream_gene_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18889205C>G	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889205C>G	Exception_encountered					PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29Q|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27Q|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E27Q	p.E29Q			Q86YW0	PLCZ1_HUMAN			3	348	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		29					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.85G>C	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280413	0.59758	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875;ENST00000539072	T;T;T;T;T	0.43294	0.95;0.95;1.74;1.73;0.95	5.5	5.5	0.81552	EF-hand-like domain (1);	0.095817	0.45606	D	0.000350	T	0.55593	0.1930	L	0.61218	1.895	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	T	0.51108	-0.8747	10	0.33940	T	0.23	.	16.1156	0.81304	0.0:1.0:0.0:0.0	.	29	Q86YW0	PLCZ1_HUMAN	Q	29;27;27;29;49	ENSP00000266505:E29Q;ENSP00000402358:E27Q;ENSP00000400504:E27Q;ENSP00000445026:E29Q;ENSP00000438629:E49Q	ENSP00000266505:E29Q	E	-	1	0	PLCZ1	18780472	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.780000	0.26760	2.591000	0.87537	0.313000	0.20887	GAA		0.353	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		8	26	0	0	0	0.003080	0	8	26				
PRR5L	79899	broad.mit.edu	37	11	36472865	36472865	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:36472865C>G	ENST00000378867.3	+	9	1047	c.692C>G	c.(691-693)tCa>tGa	p.S231*	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.S158*|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.S231*|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	231					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CGTAGCTTCTCAGGCCCCACG	0.537																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(691-693)tCa>tGa		proline rich 5 like							119.0	95.0	103.0					11																	36472865		2202	4298	6500	SO:0001587	stop_gained	79899							g.chr11:36472865C>G		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.692C>G	11.37:g.36472865C>G	ENSP00000368144:p.Ser231*					PRR5L_ENST00000530639.1_Nonsense_Mutation_p.S231*|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.S158*|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR	p.S231*	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			9	1047	+			231					A4QN22|E9PKY1|Q96H46|Q9H7V4	Nonsense_Mutation	SNP	ENST00000378867.3	37	c.692C>G	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	37	6.206409	0.97376	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	.	.	.	5.16	5.16	0.70880	.	0.772655	0.11964	N	0.512458	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.1831	16.4084	0.83698	0.0:1.0:0.0:0.0	.	.	.	.	X	231;158;231	.	ENSP00000310103:S158X	S	+	2	0	PRR5L	36429441	0.035000	0.19736	0.835000	0.33067	0.208000	0.24298	3.014000	0.49590	2.417000	0.82017	0.313000	0.20887	TCA		0.537	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		13	37	0	0	0	0.001855	0	13	37				
ONECUT2	9480	broad.mit.edu	37	18	55143901	55143901	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:55143901C>T	ENST00000491143.2	+	2	1493	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	487					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGTGGCAAGACGATCTGAGCA	0.572																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(1459-1461)gaC>gaT		one cut homeobox 2							35.0	39.0	38.0					18																	55143901		2073	4228	6301	SO:0001819	synonymous_variant	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55143901C>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1461C>T	18.37:g.55143901C>T							p.D487D	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	2	1493	+		Colorectal(73;0.234)	487						Silent	SNP	ENST00000491143.2	37	c.1461C>T	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	C	3.529	-0.096191	0.07010	.	.	ENSG00000119547	ENST00000481727	.	.	.	5.9	-3.78	0.04333	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.3136	10.2545	0.43388	0.0924:0.2908:0.0:0.6168	.	.	.	.	X	116	.	.	R	+	1	2	ONECUT2	53294899	0.000000	0.05858	0.759000	0.31340	0.666000	0.39218	-2.348000	0.01094	-1.253000	0.02488	-1.899000	0.00529	CGA		0.572	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			7	35	0	0	0	0.003080	0	7	35				
ZNF697	90874	broad.mit.edu	37	1	120165638	120165638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:120165638C>T	ENST00000421812.2	-	3	1447	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAAGCCCTTCCCGCACTCGCG	0.667																																						ENST00000421812.2																			0				ovary(2)	2						c.(1327-1329)gGg>gAg		zinc finger protein 697							17.0	19.0	18.0					1																	120165638		2186	4291	6477	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165638C>T	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1328G>A	1.37:g.120165638C>T	ENSP00000396857:p.Gly443Glu						p.G443E	NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1447	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	443					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1328G>A	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371816	0.42003	.	.	ENSG00000143067	ENST00000421812	T	0.07114	3.22	4.98	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.215010	0.23710	N	0.045327	T	0.17066	0.0410	M	0.76328	2.33	0.35991	D	0.83668	D	0.89917	1.0	D	0.97110	1.0	T	0.01688	-1.1295	10	0.62326	D	0.03	-23.7528	11.4513	0.50154	0.0:0.911:0.0:0.089	.	443	Q5TEC3	ZN697_HUMAN	E	443	ENSP00000396857:G443E	ENSP00000396857:G443E	G	-	2	0	ZNF697	119967161	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	4.784000	0.62411	1.256000	0.44068	-0.251000	0.11542	GGG		0.667	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		3	6	0	0	0	0.004672	0	3	6				
PCLO	27445	broad.mit.edu	37	7	82579179	82579179	+	Silent	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:82579179T>A	ENST00000333891.9	-	6	11062	c.10725A>T	c.(10723-10725)acA>acT	p.T3575T	PCLO_ENST00000423517.2_Silent_p.T3575T|PCLO_ENST00000437081.1_Silent_p.T295T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGACTTTGTGTGTCTGAAT	0.438																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(10723-10725)acA>acT		piccolo presynaptic cytomatrix protein							188.0	181.0	184.0					7																	82579179		2044	4193	6237	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579179T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10725A>T	7.37:g.82579179T>A						PCLO_ENST00000333891.8_Silent_p.T3575T|PCLO_ENST00000437081.1_Silent_p.T295T	p.T3575T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	11062	-			3506						Silent	SNP	ENST00000333891.9	37	c.10725A>T	CCDS47630.1																																																																																				0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	48	0	0	0	0.008871	0	18	48				
C15orf27	123591	broad.mit.edu	37	15	76467994	76467994	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:76467994G>A	ENST00000388942.3	+	8	1023	c.747G>A	c.(745-747)acG>acA	p.T249T	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	249					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGAGGCTGACGCAGATCTGTC	0.562																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(745-747)acG>acA		chromosome 15 open reading frame 27							115.0	94.0	101.0					15																	76467994		2197	4294	6491	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76467994G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.747G>A	15.37:g.76467994G>A						RP11-593F23.1_ENST00000558424.1_RNA	p.T249T	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			8	1023	+			249					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.747G>A	CCDS10289.2																																																																																				0.562	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		14	55	0	0	0	0.004007	0	14	55				
MAPK8IP1	9479	broad.mit.edu	37	11	45926322	45926322	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:45926322C>G	ENST00000241014.2	+	9	2000	c.1830C>G	c.(1828-1830)gtC>gtG	p.V610V	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Silent_p.V600V	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	610	Interaction with VRK2.|PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCAGCTGTGTCCTGGAGATCA	0.607																																						ENST00000395629.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(1798-1800)gtC>gtG		mitogen-activated protein kinase 8 interacting protein 1							81.0	86.0	85.0					11																	45926322		2203	4299	6502	SO:0001819	synonymous_variant	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45926322C>G		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1830C>G	11.37:g.45926322C>G						MAPK8IP1_ENST00000241014.2_Silent_p.V610V	p.V600V			Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	9	2130	+			610			PID.		D3DQP4|O43407	Silent	SNP	ENST00000241014.2	37	c.1800C>G	CCDS7916.1																																																																																				0.607	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		28	86	0	0	0	0.004656	0	28	86				
TCIRG1	10312	broad.mit.edu	37	11	67816564	67816564	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67816564C>T	ENST00000265686.3	+	15	1798	c.1690C>T	c.(1690-1692)Cac>Tac	p.H564Y	TCIRG1_ENST00000532635.1_Missense_Mutation_p.H348Y|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	564					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGGCCAGAGGCACCGGCTGCT	0.657																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1690-1692)Cac>Tac		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							82.0	82.0	82.0					11																	67816564		2200	4294	6494	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67816564C>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1690C>T	11.37:g.67816564C>T	ENSP00000265686:p.His564Tyr					TCIRG1_ENST00000532635.1_Missense_Mutation_p.H348Y	p.H564Y	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			15	1798	+			564					O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1690C>T	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	C	8.053	0.766324	0.15983	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.85702	-2.02;-2.02	4.32	2.46	0.29980	.	0.273076	0.41823	N	0.000807	T	0.67306	0.2879	N	0.05031	-0.125	0.29530	N	0.852882	B	0.09022	0.002	B	0.15484	0.013	T	0.58370	-0.7648	10	0.31617	T	0.26	-25.8434	9.2036	0.37275	0.0:0.8196:0.0:0.1804	.	564	Q13488	VPP3_HUMAN	Y	564;348	ENSP00000265686:H564Y;ENSP00000434407:H348Y	ENSP00000265686:H564Y	H	+	1	0	TCIRG1	67573140	0.660000	0.27420	0.681000	0.30009	0.991000	0.79684	1.283000	0.33237	0.476000	0.27440	0.555000	0.69702	CAC		0.657	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		23	238	0	0	0	0.014323	0	23	238				
LONRF2	164832	broad.mit.edu	37	2	100916183	100916183	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:100916183C>T	ENST00000393437.3	-	5	1902	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	LONRF2_ENST00000409647.1_Silent_p.K178K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	421							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ACTGACCTTTCTTGGGAATTT	0.408																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1261-1263)aaG>aaA		LON peptidase N-terminal domain and ring finger 2							73.0	74.0	73.0					2																	100916183		2203	4300	6503	SO:0001819	synonymous_variant	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100916183C>T	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1263G>A	2.37:g.100916183C>T						LONRF2_ENST00000409647.1_Silent_p.K178K	p.K421K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			5	1902	-			421					B9A006|Q6ZSR4	Silent	SNP	ENST00000393437.3	37	c.1263G>A	CCDS2046.2																																																																																				0.408	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		22	68	0	0	0	0.014323	0	22	68				
EP300	2033	broad.mit.edu	37	22	41573028	41573028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:41573028C>A	ENST00000263253.7	+	31	6532	c.5313C>A	c.(5311-5313)tgC>tgA	p.C1771*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1771	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAGGGTTGCAAACGGAAAA	0.567			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5311-5313)tgC>tgA		E1A binding protein p300							80.0	69.0	73.0					22																	41573028		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573028C>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5313C>A	22.37:g.41573028C>A	ENSP00000263253:p.Cys1771*					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.C1771*	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	6532	+			1771			Binding region for E1A adenovirus.		B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.5313C>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	52	19.784586	0.99923	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.75	5.75	0.90469	.	0.000000	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0783	19.9469	0.97185	0.0:1.0:0.0:0.0	.	.	.	.	X	1771	.	ENSP00000263253:C1771X	C	+	3	2	EP300	39902974	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.926000	0.63433	2.714000	0.92807	0.650000	0.86243	TGC		0.567	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		9	38	1	0	3.86212e-05	0.008291	4.22194e-05	9	38				
CTAG2	30848	broad.mit.edu	37	X	153880412	153880412	+	3'UTR	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:153880412C>T	ENST00000247306.4	-	0	826				CTAG2_ENST00000369585.3_Silent_p.Q178Q	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2							centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTAGCGCCTCTGCCCTGAGG	0.602																																						ENST00000369585.3																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(532-534)caG>caA		cancer/testis antigen 2							70.0	62.0	65.0					X																	153880412		2203	4295	6498	SO:0001624	3_prime_UTR_variant	30848					centrosome		g.chrX:153880412C>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.*130G>A	X.37:g.153880412C>T						CTAG2_ENST00000247306.4_3'UTR	p.Q178Q	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN			3	586	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		0					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.534G>A	CCDS14759.1																																																																																				0.602	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		22	56	0	0	0	0.014323	0	22	56				
TMCC3	57458	broad.mit.edu	37	12	94975422	94975422	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:94975422T>A	ENST00000261226.4	-	2	1102	c.971A>T	c.(970-972)cAg>cTg	p.Q324L	TMCC3_ENST00000551457.1_Missense_Mutation_p.Q293L	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	324						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTGCAGGGTCTGAGAAATAAA	0.353																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(970-972)cAg>cTg		transmembrane and coiled-coil domain family 3							57.0	57.0	57.0					12																	94975422		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975422T>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.971A>T	12.37:g.94975422T>A	ENSP00000261226:p.Gln324Leu					TMCC3_ENST00000551457.1_Missense_Mutation_p.Q293L	p.Q324L	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	1102	-			324					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.971A>T	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894734	0.72639	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.48201	0.82;0.82	5.93	5.93	0.95920	.	0.048468	0.85682	D	0.000000	T	0.67202	0.2868	M	0.76574	2.34	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.68973	-0.5268	10	0.51188	T	0.08	-39.7552	16.3829	0.83481	0.0:0.0:0.0:1.0	.	324	Q9ULS5	TMCC3_HUMAN	L	324;293	ENSP00000261226:Q324L;ENSP00000449888:Q293L	ENSP00000261226:Q324L	Q	-	2	0	TMCC3	93499553	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.263000	0.72521	2.271000	0.75665	0.459000	0.35465	CAG		0.353	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		15	50	0	0	0	0.003163	0	15	50				
VPS13A	23230	broad.mit.edu	37	9	79910535	79910535	+	Silent	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:79910535T>G	ENST00000360280.3	+	33	3845	c.3585T>G	c.(3583-3585)acT>acG	p.T1195T	VPS13A_ENST00000376634.4_Silent_p.T1195T|VPS13A_ENST00000357409.5_Silent_p.T1195T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Silent_p.T1156T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1195					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGCTGCTACTGGTGTAAAAG	0.433																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(3583-3585)acT>acG		vacuolar protein sorting 13 homolog A (S. cerevisiae)							84.0	79.0	81.0					9																	79910535		2203	4300	6503	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79910535T>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3585T>G	9.37:g.79910535T>G						VPS13A_ENST00000357409.5_Silent_p.T1195T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1195T|VPS13A_ENST00000376636.3_Silent_p.T1156T	p.T1195T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			33	3845	+			1195					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.3585T>G	CCDS6655.1																																																																																				0.433	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		9	50	0	0	0	0.004482	0	9	50				
LAMA2	3908	broad.mit.edu	37	6	129635848	129635848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:129635848G>A	ENST00000421865.2	+	24	3509	c.3460G>A	c.(3460-3462)Gga>Aga	p.G1154R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1154	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGCAAATTCGGACTCGATGC	0.527																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3460-3462)Gga>Aga		laminin, alpha 2							72.0	67.0	68.0					6																	129635848		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129635848G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3460G>A	6.37:g.129635848G>A	ENSP00000400365:p.Gly1154Arg						p.G1154R	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	24	3509	+			1154			Laminin EGF-like 13.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3460G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043207	0.93685	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.57107	0.42	5.59	5.59	0.84812	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72798	-0.4184	10	0.62326	D	0.03	.	19.5763	0.95446	0.0:0.0:1.0:0.0	.	1154;1154	A6NF00;P24043	.;LAMA2_HUMAN	R	1154	ENSP00000400365:G1154R	ENSP00000346769:G1154R	G	+	1	0	LAMA2	129677541	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.425000	0.80255	2.646000	0.89796	0.655000	0.94253	GGA		0.527	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			9	37	0	0	0	0.006214	0	9	37				
CPSF7	79869	broad.mit.edu	37	11	61188974	61188974	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:61188974G>C	ENST00000394888.4	-	3	333	c.161C>G	c.(160-162)cCt>cGt	p.P54R	CPSF7_ENST00000448745.1_Missense_Mutation_p.P54R|CPSF7_ENST00000541963.1_Missense_Mutation_p.P54R|CPSF7_ENST00000439958.3_Missense_Mutation_p.P54R|CPSF7_ENST00000340437.4_Missense_Mutation_p.P97R	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	54	Poly-Pro.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTGGCGAACAGGAGGAGGTGG	0.522																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(289-291)cCt>cGt		cleavage and polyadenylation specific factor 7, 59kDa							221.0	189.0	200.0					11																	61188974		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61188974G>C		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.161C>G	11.37:g.61188974G>C	ENSP00000378352:p.Pro54Arg					CPSF7_ENST00000541963.1_Missense_Mutation_p.P54R|CPSF7_ENST00000448745.1_Missense_Mutation_p.P54R|CPSF7_ENST00000439958.3_Missense_Mutation_p.P54R|CPSF7_ENST00000394888.4_Missense_Mutation_p.P54R	p.P97R	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			3	370	-			54			RRM.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.290C>G	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844738	0.32606	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232;ENST00000541963;ENST00000450000;ENST00000449811;ENST00000413184	T;T;T	0.40756	1.02;1.02;1.02	5.68	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);	0.415041	0.26331	N	0.024982	T	0.35451	0.0932	L	0.50333	1.59	0.38813	D	0.95545	P;B;B;B	0.48016	0.904;0.148;0.343;0.235	B;B;B;B	0.42625	0.393;0.018;0.112;0.101	T	0.18777	-1.0326	10	0.19590	T	0.45	.	9.2385	0.37481	0.0756:0.0:0.744:0.1804	.	54;54;97;54	F5H1W4;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	R	97;54;54;54;54;54;54;54;54;54;54;54	ENSP00000391359:P54R;ENSP00000392400:P54R;ENSP00000414295:P54R	ENSP00000345412:P97R	P	-	2	0	CPSF7	60945550	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.498000	0.66931	1.397000	0.46682	0.650000	0.86243	CCT		0.522	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		19	79	0	0	0	0.006122	0	19	79				
BFSP1	631	broad.mit.edu	37	20	17475534	17475534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:17475534C>G	ENST00000377873.3	-	8	1222	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q	BFSP1_ENST00000377868.2_Missense_Mutation_p.E270Q|BFSP1_ENST00000536626.1_Missense_Mutation_p.E256Q|BFSP1_ENST00000544874.1_Missense_Mutation_p.E256Q	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	395	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTGTGTCTTCCAAACCTTTT	0.413																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1183-1185)Gaa>Caa		beaded filament structural protein 1, filensin							144.0	143.0	143.0					20																	17475534		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475534C>G	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1183G>C	20.37:g.17475534C>G	ENSP00000367104:p.Glu395Gln					BFSP1_ENST00000544874.1_Missense_Mutation_p.E256Q|BFSP1_ENST00000377868.2_Missense_Mutation_p.E270Q|BFSP1_ENST00000536626.1_Missense_Mutation_p.E256Q	p.E395Q	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1222	-			395			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1183G>C	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010785	0.07727	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.87887	-2.31;1.4;1.4;1.4	4.94	2.74	0.32292	.	0.299034	0.35096	N	0.003441	T	0.78824	0.4344	L	0.32530	0.975	0.09310	N	1	B;B	0.27351	0.176;0.03	B;B	0.28849	0.095;0.012	T	0.65092	-0.6252	10	0.27082	T	0.32	-8.6384	9.8836	0.41249	0.1403:0.6597:0.2:0.0	.	270;395	Q12934-2;Q12934	.;BFSP1_HUMAN	Q	395;270;256;256	ENSP00000367104:E395Q;ENSP00000367099:E270Q;ENSP00000442522:E256Q;ENSP00000439870:E256Q	ENSP00000367099:E270Q	E	-	1	0	BFSP1	17423534	0.022000	0.18835	0.308000	0.25141	0.175000	0.22909	1.505000	0.35736	0.906000	0.36621	0.655000	0.94253	GAA		0.413	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		48	74	0	0	0	0.014410	0	48	74				
PCDHB3	56132	broad.mit.edu	37	5	140482313	140482313	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:140482313T>C	ENST00000231130.2	+	1	2080	c.2080T>C	c.(2080-2082)Ttg>Ctg	p.L694L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	694					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCATTGGCCTCGGT	0.687																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2080-2082)Ttg>Ctg									92.0	93.0	93.0					5																	140482313		2198	4287	6485	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482313T>C	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2080T>C	5.37:g.140482313T>C							p.L694L	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2080	+			694					B2R8P2	Silent	SNP	ENST00000231130.2	37	c.2080T>C	CCDS4245.1																																																																																				0.687	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		10	67	0	0	0	0.010504	0	10	67				
GLIS3	169792	broad.mit.edu	37	9	3937164	3937164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:3937164G>A	ENST00000324333.10	-	4	1464	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	GLIS3_ENST00000381971.3_Missense_Mutation_p.S579L|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	424					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCAAGCCTTGAAAAGGCCTT	0.458																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1270-1272)tCa>tTa		GLIS family zinc finger 3							85.0	86.0	86.0					9																	3937164		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3937164G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1271C>T	9.37:g.3937164G>A	ENSP00000325494:p.Ser424Leu					GLIS3_ENST00000381971.3_Missense_Mutation_p.S579L|GLIS3_ENST00000461870.1_5'UTR	p.S424L	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	4	1464	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	424					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1271C>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986367	0.93044	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.41758	0.99;0.99	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40064	U	0.001189	T	0.49575	0.1565	N	0.11064	0.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.999	T	0.58983	-0.7539	10	0.87932	D	0	.	19.9697	0.97280	0.0:0.0:1.0:0.0	.	92;92;579;424	Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	L	424;579	ENSP00000325494:S424L;ENSP00000371398:S579L	ENSP00000325494:S424L	S	-	2	0	GLIS3	3927164	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.869000	0.99810	2.807000	0.96579	0.591000	0.81541	TCA		0.458	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		9	69	0	0	0	0.008291	0	9	69				
GDF3	9573	broad.mit.edu	37	12	7842822	7842822	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:7842822C>G	ENST00000329913.3	-	2	794	c.747G>C	c.(745-747)agG>agC	p.R249S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	249					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCTGCTCTCCTTTTCCGAG	0.537																																						ENST00000329913.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(745-747)agG>agC		growth differentiation factor 3							97.0	88.0	91.0					12																	7842822		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842822C>G	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.747G>C	12.37:g.7842822C>G	ENSP00000331745:p.Arg249Ser						p.R249S	NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN			2	794	-			249					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.747G>C	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172264	0.21704	.	.	ENSG00000184344	ENST00000329913	D	0.85013	-1.93	4.61	2.72	0.32119	Transforming growth factor-beta, C-terminal (1);	0.240498	0.47852	N	0.000210	D	0.89687	0.6787	M	0.82433	2.59	0.44927	D	0.997947	D	0.62365	0.991	P	0.61800	0.894	D	0.88060	0.2793	10	0.46703	T	0.11	.	7.5534	0.27810	0.0:0.7337:0.1714:0.0949	.	249	Q9NR23	GDF3_HUMAN	S	249	ENSP00000331745:R249S	ENSP00000331745:R249S	R	-	3	2	GDF3	7734089	0.927000	0.31430	0.994000	0.49952	0.123000	0.20343	1.805000	0.38883	1.044000	0.40200	0.561000	0.74099	AGG		0.537	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			20	59	0	0	0	0.014323	0	20	59				
C7orf33	202865	broad.mit.edu	37	7	148288041	148288041	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:148288041C>G	ENST00000307003.2	+	1	385	c.24C>G	c.(22-24)ctC>ctG	p.L8L		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	8										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTCAAAGCCTCAGCCTTGAAG	0.537																																						ENST00000307003.2																			0				central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14						c.(22-24)ctC>ctG		chromosome 7 open reading frame 33							56.0	57.0	57.0					7																	148288041		2203	4300	6503	SO:0001819	synonymous_variant	202865							g.chr7:148288041C>G	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.24C>G	7.37:g.148288041C>G							p.L8L	NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	385	+	Melanoma(164;0.15)		8						Silent	SNP	ENST00000307003.2	37	c.24C>G	CCDS5890.1																																																																																				0.537	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		10	65	0	0	0	0.008291	0	10	65				
TNIK	23043	broad.mit.edu	37	3	170802911	170802911	+	Silent	SNP	G	G	A	rs368574578		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:170802911G>A	ENST00000436636.2	-	25	3338	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	TNIK_ENST00000369326.5_Silent_p.A976A|TNIK_ENST00000538048.1_Silent_p.A950A|TNIK_ENST00000284483.8_Silent_p.A990A|TNIK_ENST00000357327.5_Silent_p.A969A|TNIK_ENST00000488470.1_Silent_p.A943A|TNIK_ENST00000460047.1_Silent_p.A935A|TNIK_ENST00000475336.1_Silent_p.A906A|TNIK_ENST00000470834.1_Silent_p.A961A|TNIK_ENST00000341852.6_Silent_p.A914A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	998	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A998A(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTTACCTGCGGCTGATGATT	0.483																																						ENST00000436636.2																			2	Substitution - coding silent(2)	p.A998A(2)	lung(2)	cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2992-2994)gcC>gcT		TRAF2 and NCK interacting kinase		G	,,,,,,,	0,3814		0,0,1907	59.0	60.0	59.0		2970,2907,2883,2829,2805,2742,2718,2994	-10.7	0.0	3		59	1,8245		0,1,4122	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TNIK	NM_001161560.1,NM_001161561.1,NM_001161562.1,NM_001161563.1,NM_001161564.1,NM_001161565.1,NM_001161566.1,NM_015028.2	,,,,,,,	0,1,6029	AA,AG,GG		0.0121,0.0,0.0083	,,,,,,,	990/1353,969/1332,961/1324,943/1306,935/1298,914/1277,906/1269,998/1361	170802911	1,12059	1907	4123	6030	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802911G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2994C>T	3.37:g.170802911G>A						TNIK_ENST00000538048.1_Silent_p.A950A|TNIK_ENST00000369326.5_Silent_p.A976A|TNIK_ENST00000488470.1_Silent_p.A943A|TNIK_ENST00000475336.1_Silent_p.A906A|TNIK_ENST00000470834.1_Silent_p.A961A|TNIK_ENST00000357327.5_Silent_p.A969A|TNIK_ENST00000341852.6_Silent_p.A914A|TNIK_ENST00000284483.8_Silent_p.A990A|TNIK_ENST00000460047.1_Silent_p.A935A	p.A998A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		25	3338	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		998			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.2994C>T	CCDS46956.1																																																																																				0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		3	8	0	0	0	0.004672	0	3	8				
MKL1	57591	broad.mit.edu	37	22	40815316	40815316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:40815316G>A	ENST00000355630.3	-	12	1716	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	MKL1_ENST00000407029.1_Missense_Mutation_p.R376C|MKL1_ENST00000396617.3_Missense_Mutation_p.R376C|MKL1_ENST00000402042.1_Missense_Mutation_p.R326C	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	376	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTCGAAGGCGCTCAATCAGC	0.607			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1126-1128)Cgc>Tgc		megakaryoblastic leukemia (translocation) 1							45.0	47.0	46.0					22																	40815316		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40815316G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1126C>T	22.37:g.40815316G>A	ENSP00000347847:p.Arg376Cys					MKL1_ENST00000407029.1_Missense_Mutation_p.R376C|MKL1_ENST00000355630.3_Missense_Mutation_p.R376C|MKL1_ENST00000402042.1_Missense_Mutation_p.R326C	p.R376C			Q969V6	MKL1_HUMAN			12	1716	-			376			SAP.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1126C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780227	0.70222	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	D;D;D;D	0.88896	-2.29;-2.44;-2.29;-2.29	5.03	5.03	0.67393	DNA-binding SAP (4);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	H	0.95504	3.68	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;P	0.91635	0.999;0.91;0.807	D	0.96353	0.9260	10	0.87932	D	0	-26.8399	12.3777	0.55289	0.0:0.0:0.7111:0.2889	.	326;376;376	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	C	376;376;326;376	ENSP00000347847:R376C;ENSP00000379861:R376C;ENSP00000385584:R326C;ENSP00000385835:R376C	ENSP00000347847:R376C	R	-	1	0	MKL1	39145262	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.190000	0.50973	2.613000	0.88420	0.655000	0.94253	CGC		0.607	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		8	26	0	0	0	0.006214	0	8	26				
PPP1R1A	5502	broad.mit.edu	37	12	54975892	54975892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:54975892G>A	ENST00000257905.8	-	5	441	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	91					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						TGCCCCAGGTGATGTTCAACC	0.592																																						ENST00000257905.8																			0				lung(2)	2						c.(271-273)Cac>Tac		protein phosphatase 1, regulatory (inhibitor) subunit 1A							37.0	40.0	39.0					12																	54975892		1924	4135	6059	SO:0001583	missense	5502				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr12:54975892G>A	U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.271C>T	12.37:g.54975892G>A	ENSP00000257905:p.His91Tyr					PPP1R1A_ENST00000547431.1_Intron	p.H91Y	NM_006741.3	NP_006732.3	Q13522	PPR1A_HUMAN			5	441	-			91					Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	ENST00000257905.8	37	c.271C>T	CCDS44912.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343559	0.82022	.	.	ENSG00000135447	ENST00000257905	T	0.59502	0.26	5.54	5.54	0.83059	.	0.067262	0.64402	D	0.000014	T	0.72716	0.3495	M	0.68317	2.08	0.42513	D	0.992971	D	0.61080	0.989	D	0.64595	0.927	T	0.75218	-0.3395	10	0.87932	D	0	.	15.3582	0.74443	0.0:0.0:1.0:0.0	.	91	Q13522	PPR1A_HUMAN	Y	91	ENSP00000257905:H91Y	ENSP00000257905:H91Y	H	-	1	0	PPP1R1A	53262159	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.623000	0.67757	2.778000	0.95560	0.655000	0.94253	CAC		0.592	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406604.1	NM_006741		12	27	0	0	0	0.002450	0	12	27				
TRMU	55687	broad.mit.edu	37	22	46751462	46751462	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:46751462G>C	ENST00000290846.4	+	9	1335	c.995G>C	c.(994-996)cGa>cCa	p.R332P	TRMU_ENST00000381019.3_Missense_Mutation_p.R332P	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	332					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TGCCACTTCCGATTCCGCCAC	0.642											OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(994-996)cGa>cCa		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							57.0	53.0	54.0					22																	46751462		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46751462G>C	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.995G>C	22.37:g.46751462G>C	ENSP00000290846:p.Arg332Pro		OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941	TRMU_ENST00000381019.3_Missense_Mutation_p.R332P	p.R332P	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	9	1335	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	332					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.995G>C	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216850	0.95104	.	.	ENSG00000100416	ENST00000290846;ENST00000381019	T;T	0.74526	-0.85;-0.85	5.5	5.5	0.81552	.	0.055023	0.64402	D	0.000001	D	0.88588	0.6477	M	0.87038	2.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.981;0.997	D	0.90132	0.4207	10	0.87932	D	0	-19.5743	19.0082	0.92861	0.0:0.0:1.0:0.0	.	178;178;332;332	O75648-3;O75648-4;O75648-2;O75648	.;.;.;MTU1_HUMAN	P	332	ENSP00000290846:R332P;ENSP00000370407:R332P	ENSP00000290846:R332P	R	+	2	0	TRMU	45130126	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	7.338000	0.79269	2.597000	0.87782	0.563000	0.77884	CGA		0.642	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		19	33	0	0	0	0.010504	0	19	33				
MNT	4335	broad.mit.edu	37	17	2298449	2298449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:2298449C>T	ENST00000174618.4	-	2	778	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	125					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CCGGGGGCGCCAACCAGGGCC	0.721																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(373-375)Ggc>Agc		MAX network transcriptional repressor							7.0	7.0	7.0					17																	2298449		2062	4070	6132	SO:0001583	missense	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2298449C>T	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.373G>A	17.37:g.2298449C>T	ENSP00000174618:p.Gly125Ser						p.G125S	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	2	778	-			125					A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	c.373G>A	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	T	0.781	-0.762399	0.02996	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	T	0.79352	-1.26	4.59	0.964	0.19655	.	0.759054	0.12037	N	0.505378	T	0.36908	0.0984	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41662	-0.9496	10	0.02654	T	1	-2.3134	4.5663	0.12187	0.1336:0.2349:0.0:0.6315	.	125	Q99583	MNT_HUMAN	S	125	ENSP00000174618:G125S	ENSP00000174618:G125S	G	-	1	0	MNT	2245199	0.677000	0.27577	0.498000	0.27564	0.515000	0.34225	0.556000	0.23438	-0.065000	0.13021	-0.254000	0.11334	GGC		0.721	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		4	7	0	0	0	0.009096	0	4	7				
TTN	7273	broad.mit.edu	37	2	179434801	179434801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179434801C>G	ENST00000591111.1	-	276	71359	c.71135G>C	c.(71134-71136)aGa>aCa	p.R23712T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16288T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16480T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16413T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25353T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22785T			Q8WZ42	TITIN_HUMAN	titin	23712	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTATGGCATCTTGTCCATCT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(76057-76059)aGa>aCa		titin							129.0	120.0	123.0					2																	179434801		1952	4147	6099	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434801C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71135G>C	2.37:g.179434801C>G	ENSP00000465570:p.Arg23712Thr					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22785T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16480T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23712T|TTN_ENST00000460472.2_Missense_Mutation_p.R16288T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16413T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.R25353T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	76282	-			23712			Fibronectin type-III 84.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.76058G>C		.	.	.	.	.	.	.	.	.	.	C	14.74	2.624437	0.46840	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67776	0.2929	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.68424	-0.5412	9	0.87932	D	0	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	16288;16413;16480;23712	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	22785;16288;16480;16413;16286	ENSP00000343764:R22785T;ENSP00000434586:R16288T;ENSP00000340554:R16480T;ENSP00000352154:R16413T	ENSP00000340554:R16480T	R	-	2	0	TTN	179143047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.093000	0.71422	2.770000	0.95276	0.650000	0.86243	AGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	141	0	0	0	0.004672	0	3	141				
SLC2A14	144195	broad.mit.edu	37	12	7980270	7980270	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:7980270G>A	ENST00000543909.1	-	12	1513	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	SLC2A14_ENST00000535295.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R229W|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R229W|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R267W|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R252W|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	252					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCCCACAACCGCTGGAGGACT	0.507																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(754-756)Cgg>Tgg		solute carrier family 2 (facilitated glucose transporter), member 14							18.0	21.0	20.0					12																	7980270		2189	4280	6469	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7980270G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.754C>T	12.37:g.7980270G>A	ENSP00000440480:p.Arg252Trp					SLC2A14_ENST00000542546.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R229W|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R252W|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R229W|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R267W	p.R252W			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	12	1513	-			252					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.754C>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	3.603	-0.081240	0.07141	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	3.58	-2.18	0.07037	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.530384	0.19316	N	0.117273	T	0.61751	0.2372	L	0.46885	1.475	0.09310	N	0.999991	B;B;B;B	0.33266	0.205;0.072;0.012;0.404	B;B;B;B	0.33196	0.11;0.077;0.013;0.159	T	0.50311	-0.8843	10	0.33141	T	0.24	.	2.7326	0.05231	0.1043:0.1253:0.3822:0.3882	.	267;143;229;252	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	W	229;252;229;252;143;143;267	ENSP00000340450:R229W;ENSP00000440480:R252W;ENSP00000407287:R229W;ENSP00000379834:R252W;ENSP00000440492:R143W;ENSP00000443903:R143W;ENSP00000445929:R267W	ENSP00000340450:R229W	R	-	1	2	SLC2A14	7871537	0.039000	0.19947	0.082000	0.20525	0.784000	0.44337	0.340000	0.19892	-0.252000	0.09528	-0.916000	0.02749	CGG		0.507	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		7	46	0	0	0	0.013537	0	7	46				
CERS6	253782	broad.mit.edu	37	2	169417810	169417810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:169417810C>G	ENST00000305747.6	+	3	972	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V	CERS6_ENST00000392687.4_Missense_Mutation_p.L129V	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	129					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GCCAAGCACGCTGACGAGGTT	0.448																																						ENST00000305747.6																			0											c.(385-387)Ctg>Gtg		ceramide synthase 6							138.0	130.0	133.0					2																	169417810		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169417810C>G	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.385C>G	2.37:g.169417810C>G	ENSP00000306579:p.Leu129Val					CERS6_ENST00000392687.4_Missense_Mutation_p.L129V	p.L129V	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			3	972	+			129					Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.385C>G	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891000	0.72524	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.12774	2.84;2.65	5.31	5.31	0.75309	Homeobox (1);	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	M	0.70595	2.14	0.80722	D	1	P;P	0.47545	0.83;0.897	B;P	0.46389	0.362;0.515	T	0.01242	-1.1408	10	0.33141	T	0.24	-20.3925	19.3447	0.94358	0.0:1.0:0.0:0.0	.	129;129	Q32M63;Q6ZMG9	.;CERS6_HUMAN	V	129	ENSP00000306579:L129V;ENSP00000376453:L129V	ENSP00000306579:L129V	L	+	1	2	CERS6	169126056	1.000000	0.71417	0.671000	0.29857	0.993000	0.82548	4.784000	0.62411	2.641000	0.89580	0.650000	0.86243	CTG		0.448	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		15	100	0	0	0	0.004007	0	15	100				
BDNF	627	broad.mit.edu	37	11	27679532	27679532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:27679532C>T	ENST00000525528.1	-	1	1673	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	BDNF_ENST00000439476.2_Missense_Mutation_p.E194K|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.E202K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.E194K|BDNF_ENST00000356660.4_Missense_Mutation_p.E194K|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.E209K|BDNF_ENST00000533131.1_Missense_Mutation_p.E194K|BDNF_ENST00000395980.2_Missense_Mutation_p.E194K|BDNF_ENST00000533246.1_Missense_Mutation_p.E194K|BDNF_ENST00000395983.3_Missense_Mutation_p.E194K|BDNF_ENST00000418212.1_Missense_Mutation_p.E194K|BDNF_ENST00000395978.3_Missense_Mutation_p.E194K|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000530861.1_Missense_Mutation_p.E194K|BDNF_ENST00000525950.1_Missense_Mutation_p.E194K|BDNF_ENST00000395981.3_Missense_Mutation_p.E194K|BDNF_ENST00000532997.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.E276K|BDNF-AS_ENST00000532965.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	194					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						CTGCAGCCTTCTTTTGTGTAA	0.512																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(580-582)Gaa>Aaa		brain-derived neurotrophic factor							184.0	182.0	183.0					11																	27679532		2202	4299	6501	SO:0001583	missense	627					extracellular region	growth factor activity	g.chr11:27679532C>T	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.580G>A	11.37:g.27679532C>T	ENSP00000437138:p.Glu194Lys					BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.E194K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.E194K|BDNF_ENST00000395983.3_Missense_Mutation_p.E194K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.E194K|BDNF_ENST00000395986.2_Missense_Mutation_p.E209K|BDNF_ENST00000356660.4_Missense_Mutation_p.E194K|BDNF_ENST00000395978.3_Missense_Mutation_p.E194K|BDNF_ENST00000418212.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.E276K|BDNF_ENST00000420794.1_Missense_Mutation_p.E194K|BDNF_ENST00000314915.6_Missense_Mutation_p.E202K|BDNF_ENST00000395980.2_Missense_Mutation_p.E194K|BDNF_ENST00000533246.1_Missense_Mutation_p.E194K|BDNF_ENST00000533131.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.E194K|BDNF_ENST00000584049.1_5'UTR	p.E194K	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN			1	1673	-			194					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	c.580G>A	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604775	0.46423	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	6.08	6.08	0.98989	Nerve growth factor-related (4);	0.156078	0.56097	D	0.000034	T	0.72961	0.3526	N	0.24115	0.695	0.80722	D	1	P;P;P;B;P	0.48640	0.726;0.908;0.913;0.358;0.913	P;P;P;B;P	0.61533	0.569;0.527;0.89;0.082;0.89	T	0.74639	-0.3598	10	0.87932	D	0	-13.6562	20.6721	0.99693	0.0:1.0:0.0:0.0	.	223;276;202;194;209	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	K	194;194;209;194;194;194;194;194;194;276;194;194;194;194;194;202;194	ENSP00000389345:E194K;ENSP00000437138:E194K;ENSP00000379309:E209K;ENSP00000432727:E194K;ENSP00000349084:E194K;ENSP00000400502:E194K;ENSP00000432376:E194K;ENSP00000435564:E194K;ENSP00000379307:E194K;ENSP00000414303:E276K;ENSP00000379304:E194K;ENSP00000435805:E194K;ENSP00000379305:E194K;ENSP00000379302:E194K;ENSP00000432035:E194K;ENSP00000320002:E202K;ENSP00000389564:E194K	ENSP00000320002:E202K	E	-	1	0	BDNF	27636108	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GAA		0.512	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		38	108	0	0	0	0.005524	0	38	108				
RBM34	23029	broad.mit.edu	37	1	235295270	235295270	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:235295270C>G	ENST00000408888.3	-	11	1281	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	RBM34_ENST00000366606.3_Missense_Mutation_p.E346Q|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	351	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CCCATGAGTTCAGAATTATTT	0.318																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(1051-1053)Gaa>Caa		RNA binding motif protein 34							70.0	64.0	66.0					1																	235295270		1805	4070	5875	SO:0001583	missense	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235295270C>G		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1051G>C	1.37:g.235295270C>G	ENSP00000386226:p.Glu351Gln					RBM34_ENST00000366606.3_Missense_Mutation_p.E346Q|RBM34_ENST00000495224.1_5'UTR	p.E351Q			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		11	1281	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	351			RRM 2.		A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	c.1051G>C	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018198	0.75275	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.17054	2.3;2.3;2.3	5.64	5.64	0.86602	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.141330	0.64402	D	0.000006	T	0.20740	0.0499	L	0.45352	1.415	0.80722	D	1	P	0.37423	0.594	B	0.41412	0.356	T	0.01800	-1.1271	10	0.21540	T	0.41	-33.4987	17.8898	0.88867	0.0:1.0:0.0:0.0	.	351	P42696	RBM34_HUMAN	Q	351;346;329	ENSP00000386226:E351Q;ENSP00000355565:E346Q;ENSP00000400000:E329Q	ENSP00000355565:E346Q	E	-	1	0	RBM34	233361893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.609000	0.54117	2.660000	0.90430	0.563000	0.77884	GAA		0.318	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		12	43	0	0	0	0.001855	0	12	43				
LAMA4	3910	broad.mit.edu	37	6	112465999	112465999	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:112465999G>C	ENST00000230538.7	-	19	2887	c.2490C>G	c.(2488-2490)agC>agG	p.S830R	LAMA4_ENST00000522006.1_Missense_Mutation_p.S823R|LAMA4_ENST00000424408.2_Missense_Mutation_p.S823R|LAMA4_ENST00000389463.4_Missense_Mutation_p.S823R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	830	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTACCTTGCTGGCAACAC	0.512																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2488-2490)agC>agG		laminin, alpha 4							111.0	111.0	111.0					6																	112465999		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112465999G>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2490C>G	6.37:g.112465999G>C	ENSP00000230538:p.Ser830Arg					LAMA4_ENST00000389463.4_Missense_Mutation_p.S823R|LAMA4_ENST00000424408.2_Missense_Mutation_p.S823R|LAMA4_ENST00000522006.1_Missense_Mutation_p.S823R	p.S830R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	19	2887	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	830			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2490C>G	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233178	0.58777	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin II (1);	0.162448	0.64402	D	0.000002	T	0.40423	0.1116	M	0.69823	2.125	0.80722	D	1	P;P	0.39717	0.684;0.634	B;B	0.41036	0.346;0.234	T	0.49062	-0.8978	10	0.72032	D	0.01	.	12.5526	0.56236	0.0753:0.0:0.9247:0.0	.	830;823	Q16363;Q16363-2	LAMA4_HUMAN;.	R	830;823;823;823	ENSP00000230538:S830R;ENSP00000429488:S823R;ENSP00000374114:S823R;ENSP00000416470:S823R	ENSP00000230538:S830R	S	-	3	2	LAMA4	112572692	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.661000	0.54503	2.780000	0.95670	0.655000	0.94253	AGC		0.512	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		21	82	0	0	0	0.012319	0	21	82				
ALOXE3	59344	broad.mit.edu	37	17	8021162	8021162	+	Splice_Site	SNP	C	C	T	rs199913948		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:8021162C>T	ENST00000448843.2	-	2	487	c.147G>A	c.(145-147)tcG>tcA	p.S49S	ALOXE3_ENST00000380149.1_Splice_Site_p.S205S|ALOXE3_ENST00000318227.3_Splice_Site_p.S181S	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	49	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TTGTACTCACCGATCCAGGGG	0.612																																						ENST00000380149.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.e1+1		arachidonate lipoxygenase 3							45.0	33.0	37.0					17																	8021162		2203	4300	6503	SO:0001630	splice_region_variant	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8021162C>T	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.147+1G>A	17.37:g.8021162C>T						ALOXE3_ENST00000318227.3_Splice_Site_p.S181_splice|ALOXE3_ENST00000448843.2_Splice_Site_p.S49_splice	p.S205_splice			Q9BYJ1	LOXE3_HUMAN			1	645	-			49			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Splice_Site	SNP	ENST00000448843.2	37	c.615_splice	CCDS11130.1																																																																																				0.612	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		Silent	4	24	0	0	0	0.000602	0	4	24				
PCNXL2	80003	broad.mit.edu	37	1	233394516	233394516	+	Silent	SNP	G	G	A	rs371787723		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:233394516G>A	ENST00000258229.9	-	5	1326	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	364						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGGGTCTCCGGGTTGAGAAG	0.517																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1090-1092)ccC>ccT		pecanex-like 2 (Drosophila)		G		0,3954		0,0,1977	90.0	91.0	91.0		1092	-5.1	0.2	1		91	1,8333		0,1,4166	no	coding-synonymous	PCNXL2	NM_014801.3		0,1,6143	AA,AG,GG		0.012,0.0,0.0081		364/2138	233394516	1,12287	1977	4167	6144	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233394516G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1092C>T	1.37:g.233394516G>A						PCNXL2_ENST00000430153.1_5'UTR	p.P364P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			5	1326	-		all_cancers(173;0.0347)|Prostate(94;0.137)	364					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.1092C>T	CCDS44335.1																																																																																				0.517	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		29	119	0	0	0	0.005443	0	29	119				
UNC13B	10497	broad.mit.edu	37	9	35403456	35403456	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35403456C>T	ENST00000378495.3	+	38	4572	c.4350C>T	c.(4348-4350)ctC>ctT	p.L1450L	UNC13B_ENST00000378496.4_Silent_p.L1469L|UNC13B_ENST00000396787.1_Silent_p.L1481L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1450	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAATGACCTCAAGTGGCAGA	0.532																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4348-4350)ctC>ctT		unc-13 homolog B (C. elegans)							59.0	59.0	59.0					9																	35403456		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35403456C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4350C>T	9.37:g.35403456C>T						UNC13B_ENST00000396787.1_Silent_p.L1481L|UNC13B_ENST00000378496.4_Silent_p.L1469L	p.L1450L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		38	4572	+	all_epithelial(49;0.212)		1450			C2 3.		Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.4350C>T	CCDS6579.1																																																																																				0.532	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		27	47	0	0	0	0.008361	0	27	47				
PUS7	54517	broad.mit.edu	37	7	105098338	105098338	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:105098338G>C	ENST00000356362.2	-	16	2099	c.1885C>G	c.(1885-1887)Cta>Gta	p.L629V	PUS7_ENST00000469408.1_Missense_Mutation_p.L629V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	629					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GAAGGGGGTAGAGAAAAATCC	0.473																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(1885-1887)Cta>Gta		pseudouridylate synthase 7 homolog (S. cerevisiae)							150.0	139.0	143.0					7																	105098338		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105098338G>C	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1885C>G	7.37:g.105098338G>C	ENSP00000348722:p.Leu629Val					PUS7_ENST00000469408.1_Missense_Mutation_p.L629V	p.L629V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			16	2099	-			629					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.1885C>G	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455742	0.84209	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.59906	0.23;0.23	5.86	5.86	0.93980	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86123	0.1570	10	0.87932	D	0	.	12.819	0.57681	0.0741:0.0:0.9259:0.0	.	629;629	B3KY42;Q96PZ0	.;PUS7_HUMAN	V	629	ENSP00000348722:L629V;ENSP00000417402:L629V	ENSP00000348722:L629V	L	-	1	2	PUS7	104885574	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.360000	0.73064	2.937000	0.99478	0.650000	0.86243	CTA		0.473	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		32	88	0	0	0	0.010818	0	32	88				
PLCE1	51196	broad.mit.edu	37	10	95791019	95791019	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791019T>C	ENST00000371380.3	+	1	451	c.216T>C	c.(214-216)atT>atC	p.I72I	PLCE1_ENST00000260766.3_Silent_p.I72I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	72					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCCAAAGATTCTCTCAATAG	0.393																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(214-216)atT>atC		phospholipase C, epsilon 1							69.0	64.0	66.0					10																	95791019		1868	4103	5971	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791019T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.216T>C	10.37:g.95791019T>C						PLCE1_ENST00000371380.2_Silent_p.I72I	p.I72I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	850	+		Colorectal(252;0.0458)	72					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.216T>C	CCDS41552.1																																																																																				0.393	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		14	29	0	0	0	0.004007	0	14	29				
FREM1	158326	broad.mit.edu	37	9	14848678	14848678	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:14848678C>A	ENST00000380880.3	-	7	2029	c.1246G>T	c.(1246-1248)Gta>Tta	p.V416L	FREM1_ENST00000422223.2_Missense_Mutation_p.V416L|RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000380881.4_Missense_Mutation_p.V417L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	416					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCCAGGATACACGGGGGGCA	0.423																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1249-1251)Gta>Tta		FRAS1 related extracellular matrix 1							133.0	118.0	123.0					9																	14848678		1902	4128	6030	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14848678C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1246G>T	9.37:g.14848678C>A	ENSP00000370262:p.Val416Leu					FREM1_ENST00000422223.2_Missense_Mutation_p.V416L|FREM1_ENST00000380880.3_Missense_Mutation_p.V416L	p.V417L			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	8	2064	-			416					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1249G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553681	0.86231	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.14391	2.51;2.51;2.51	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	L	0.46567	1.45	0.58432	D	0.999998	D	0.65815	0.995	D	0.72338	0.977	T	0.00520	-1.1692	10	0.51188	T	0.08	-14.5823	19.8344	0.96650	0.0:1.0:0.0:0.0	.	416	Q5H8C1	FREM1_HUMAN	L	417;416;416	ENSP00000370263:V417L;ENSP00000412940:V416L;ENSP00000370262:V416L	ENSP00000370257:V419L	V	-	1	0	FREM1	14838678	1.000000	0.71417	0.654000	0.29608	0.718000	0.41266	7.487000	0.81328	2.692000	0.91855	0.655000	0.94253	GTA		0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		19	42	1	0	1.28384e-07	0.012319	1.4211e-07	19	42				
CNTNAP2	26047	broad.mit.edu	37	7	147336299	147336299	+	Missense_Mutation	SNP	G	G	A	rs374920791		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:147336299G>A	ENST00000361727.3	+	13	2515	c.1999G>A	c.(1999-2001)Gcc>Acc	p.A667T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	667	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.A667T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGTTTACAGCGCCTCCATGGA	0.502										HNSCC(39;0.1)																												ENST00000361727.3																			1	Substitution - Missense(1)	p.A667T(1)	ovary(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1999-2001)Gcc>Acc		contactin associated protein-like 2		G	THR/ALA	0,4406		0,0,2203	148.0	126.0	133.0		1999	5.7	1.0	7		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	667/1332	147336299	1,13005	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147336299G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1999G>A	7.37:g.147336299G>A	ENSP00000354778:p.Ala667Thr	HNSCC(39;0.1)					p.A667T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		13	2515	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	667			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1999G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959480	0.74016	0.0	1.16E-4	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.15487	2.42;2.42	5.74	5.74	0.90152	.	0.065352	0.64402	D	0.000013	T	0.24353	0.0590	M	0.78344	2.41	0.80722	D	1	B	0.34226	0.443	B	0.25291	0.059	T	0.03060	-1.1077	10	0.51188	T	0.08	.	18.8598	0.92267	0.0:0.0:1.0:0.0	.	667	Q9UHC6	CNTP2_HUMAN	T	667;58	ENSP00000354778:A667T;ENSP00000392208:A58T	ENSP00000354778:A667T	A	+	1	0	CNTNAP2	146967232	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	6.803000	0.75180	2.873000	0.98535	0.561000	0.74099	GCC		0.502	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			18	49	0	0	0	0.006122	0	18	49				
ST5	6764	broad.mit.edu	37	11	8736175	8736175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:8736175C>T	ENST00000534127.1	-	10	2309	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.E642K|ST5_ENST00000526757.1_Missense_Mutation_p.E222K|ST5_ENST00000530438.1_Missense_Mutation_p.E222K|ST5_ENST00000530991.1_Missense_Mutation_p.E114K|ST5_ENST00000357665.1_Missense_Mutation_p.E642K|ST5_ENST00000526099.1_Missense_Mutation_p.E155K	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	642					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GATGCTGTTTCAATGCTGGAC	0.468																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1924-1926)Gaa>Aaa		suppression of tumorigenicity 5							234.0	211.0	219.0					11																	8736175		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8736175C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1924G>A	11.37:g.8736175C>T	ENSP00000433528:p.Glu642Lys					ST5_ENST00000530438.1_Missense_Mutation_p.E222K|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.E114K|ST5_ENST00000357665.1_Missense_Mutation_p.E642K|ST5_ENST00000313726.6_Missense_Mutation_p.E642K|ST5_ENST00000526757.1_Missense_Mutation_p.E222K|ST5_ENST00000526099.1_Missense_Mutation_p.E155K	p.E642K	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	10	2309	-			642					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1924G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135416	0.77662	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527	T;T;T;T;T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.40543	1.245	0.80722	D	1	D;B;B	0.58620	0.983;0.066;0.001	P;B;B	0.60949	0.881;0.059;0.007	T	0.00123	-1.2026	10	0.44086	T	0.13	-18.1457	17.7409	0.88406	0.0:1.0:0.0:0.0	.	155;222;642	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	K	222;642;642;114;642;155;222;114;252;114;114	ENSP00000435097:E222K;ENSP00000433528:E642K;ENSP00000319678:E642K;ENSP00000432887:E114K;ENSP00000350294:E642K;ENSP00000436808:E155K;ENSP00000436802:E222K;ENSP00000433588:E114K;ENSP00000437096:E114K;ENSP00000431580:E114K	ENSP00000319678:E642K	E	-	1	0	ST5	8692751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.938000	0.75904	2.637000	0.89404	0.650000	0.86243	GAA		0.468	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		6	27	0	0	0	0.001168	0	6	27				
AGPAT1	10554	broad.mit.edu	37	6	32137994	32137994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:32137994C>G	ENST00000395499.1	-	5	1133	c.554G>C	c.(553-555)gGc>gCc	p.G185A	AGPAT1_ENST00000375104.2_Missense_Mutation_p.G185A|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000395496.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G73A|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G185A|PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G185A			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	185					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CAGCATGGAGCCATTGTGGTT	0.537																																						ENST00000395499.1																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(553-555)gGc>gCc		1-acylglycerol-3-phosphate O-acyltransferase 1							73.0	70.0	71.0					6																	32137994		2203	4300	6503	SO:0001583	missense	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32137994C>G	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.554G>C	6.37:g.32137994C>G	ENSP00000378877:p.Gly185Ala					PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G73A|AGPAT1_ENST00000395496.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.G185A|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G185A|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G185A	p.G185A			Q99943	PLCA_HUMAN			5	1133	-			185					A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	37	c.554G>C	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926013	0.92319	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984;ENST00000412465	D;D;D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53	5.92	5.92	0.95590	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.103168	0.64402	D	0.000003	D	0.96500	0.8858	M	0.90198	3.095	0.80722	D	1	D;P;D	0.56746	0.974;0.952;0.977	P;P;P	0.62184	0.837;0.758;0.899	D	0.95587	0.8651	10	0.09843	T	0.71	-15.6909	17.8263	0.88666	0.0:1.0:0.0:0.0	.	149;75;185	B4DRH1;B3KPH3;Q99943	.;.;PLCA_HUMAN	A	185;185;185;185;185;185;73	ENSP00000378874:G185A;ENSP00000364248:G185A;ENSP00000378877:G185A;ENSP00000364245:G185A;ENSP00000378875:G185A;ENSP00000337463:G185A;ENSP00000410473:G73A	ENSP00000337463:G185A	G	-	2	0	AGPAT1	32245972	0.813000	0.29090	1.000000	0.80357	0.969000	0.65631	3.037000	0.49775	2.805000	0.96524	0.655000	0.94253	GGC		0.537	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		7	12	0	0	0	0.001984	0	7	12				
PARP14	54625	broad.mit.edu	37	3	122420364	122420364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:122420364C>T	ENST00000474629.2	+	6	3229	c.2963C>T	c.(2962-2964)cCg>cTg	p.P988L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	988					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACAGCTGCCCCGCCAGGTTTA	0.522																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(2962-2964)cCg>cTg		poly (ADP-ribose) polymerase family, member 14							30.0	31.0	31.0					3																	122420364		1922	4136	6058	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122420364C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2963C>T	3.37:g.122420364C>T	ENSP00000418194:p.Pro988Leu						p.P988L	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	3229	+			988					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.2963C>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	8.027	0.760897	0.15914	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.10382	2.88	5.14	-10.3	0.00346	.	3.763150	0.00550	N	0.000258	T	0.03220	0.0094	N	0.03177	-0.4	0.09310	N	0.999993	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.001	T	0.35101	-0.9802	10	0.20519	T	0.43	.	1.9535	0.03371	0.2784:0.3632:0.1888:0.1696	.	988;988	Q460N5-4;Q460N5	.;PAR14_HUMAN	L	988;907	ENSP00000418194:P988L	ENSP00000381228:P907L	P	+	2	0	PARP14	123903054	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.751000	0.00792	-2.773000	0.00364	-2.108000	0.00357	CCG		0.522	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		4	17	0	0	0	0.000602	0	4	17				
CMTR1	23070	broad.mit.edu	37	6	37411845	37411845	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:37411845C>T	ENST00000373451.4	+	3	368	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	68					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										ACTCTTTTGACGATGCATTCA	0.433																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(202-204)gaC>gaT									177.0	160.0	166.0					6																	37411845		2203	4300	6503	SO:0001819	synonymous_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37411845C>T	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.204C>T	6.37:g.37411845C>T							p.D68D	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			3	368	+			68					A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.204C>T	CCDS4835.1																																																																																				0.433	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		40	52	0	0	0	0.007835	0	40	52				
CD19	930	broad.mit.edu	37	16	28948971	28948971	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:28948971G>A	ENST00000324662.3	+	11	1443	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CD19_ENST00000567541.1_Missense_Mutation_p.E467K|CD19_ENST00000538922.1_Missense_Mutation_p.E467K			P15391	CD19_HUMAN	CD19 molecule	467					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CGAGGATGAAGAGCTGACCCA	0.567																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(1399-1401)Gag>Aag		CD19 molecule							73.0	75.0	75.0					16																	28948971		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948971G>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1399G>A	16.37:g.28948971G>A	ENSP00000313419:p.Glu467Lys					CD19_ENST00000567541.1_Missense_Mutation_p.E467K|CD19_ENST00000324662.3_Missense_Mutation_p.E467K	p.E467K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			11	1461	+			467					A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.1399G>A	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556156	0.86231	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.54279	0.58;0.58	4.48	4.48	0.54585	.	0.000000	0.45361	D	0.000362	T	0.59197	0.2176	L	0.29908	0.895	0.36497	D	0.868809	D;D	0.64830	0.994;0.99	D;D	0.68621	0.959;0.912	T	0.68746	-0.5327	10	0.87932	D	0	-9.8008	13.0284	0.58829	0.0:0.0:1.0:0.0	.	467;467	F5H635;P15391	.;CD19_HUMAN	K	467;274;467;316	ENSP00000437940:E467K;ENSP00000313419:E467K	ENSP00000313419:E467K	E	+	1	0	CD19	28856472	0.998000	0.40836	1.000000	0.80357	0.959000	0.62525	4.321000	0.59209	2.208000	0.71279	0.462000	0.41574	GAG		0.567	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			19	35	0	0	0	0.006122	0	19	35				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	25	0	0	0	0.009096	0	4	25				
MYLK3	91807	broad.mit.edu	37	16	46741676	46741676	+	Splice_Site	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:46741676C>T	ENST00000394809.4	-	13	2516		c.e13-1		MYLK3_ENST00000536476.1_Splice_Site|MYLK3_ENST00000562104.1_Splice_Site	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3						cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGAAATGTTTCTTGAGGCAAG	0.393																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.e13-1		myosin light chain kinase 3							78.0	75.0	76.0					16																	46741676		2203	4300	6503	SO:0001630	splice_region_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46741676C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2401-1G>A	16.37:g.46741676C>T						MYLK3_ENST00000562104.1_Splice_Site|MYLK3_ENST00000536476.1_Splice_Site		NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			13	2516	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)						B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Splice_Site	SNP	ENST00000394809.4	37		CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791988	0.70452	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9916	0.92794	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYLK3	45299177	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	6.054000	0.71096	2.501000	0.84356	0.467000	0.42956	.		0.393	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493	Intron	13	47	0	0	0	0.001855	0	13	47				
FAM46B	115572	broad.mit.edu	37	1	27332876	27332876	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:27332876G>A	ENST00000289166.5	-	2	1002	c.837C>T	c.(835-837)ctC>ctT	p.L279L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	279										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGTACTTGAGGAGGCCACCAC	0.677																																						ENST00000289166.5																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(835-837)ctC>ctT		family with sequence similarity 46, member B							21.0	23.0	22.0					1																	27332876		2202	4296	6498	SO:0001819	synonymous_variant	115572							g.chr1:27332876G>A	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.837C>T	1.37:g.27332876G>A							p.L279L	NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	1002	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	279						Silent	SNP	ENST00000289166.5	37	c.837C>T	CCDS294.2																																																																																				0.677	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		9	18	0	0	0	0.008291	0	9	18				
TTN	7273	broad.mit.edu	37	2	179616442	179616442	+	Intron	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179616442G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.S3562F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGCTGGAAGAGTGATGGTG	0.423																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10684-10686)tCt>tTt		titin							74.0	77.0	76.0					2																	179616442		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616442G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1408C>T	2.37:g.179616442G>A						TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA	p.S3562F	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10907	-			3558			Ig-like 21.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10685C>T		.	.	.	.	.	.	.	.	.	.	G	12.74	2.029380	0.35797	.	.	ENSG00000155657	ENST00000360870	T	0.68624	-0.34	5.76	3.96	0.45880	.	.	.	.	.	T	0.57066	0.2028	L	0.28274	0.84	0.80722	D	1	D	0.54964	0.969	P	0.51135	0.66	T	0.50311	-0.8843	9	0.10377	T	0.69	.	10.2808	0.43539	0.0:0.3321:0.568:0.0999	.	3562	Q8WZ42-6	.	F	3562	ENSP00000354117:S3562F	ENSP00000354117:S3562F	S	-	2	0	TTN	179324687	0.686000	0.27661	0.999000	0.59377	0.890000	0.51754	0.696000	0.25541	0.636000	0.30508	0.655000	0.94253	TCT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	101	0	0	0	0.007835	0	41	101				
FAT1	2195	broad.mit.edu	37	4	187539252	187539252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:187539252G>A	ENST00000441802.2	-	10	8697	c.8488C>T	c.(8488-8490)Cag>Tag	p.Q2830*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2830	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCCTGATCTGAATTACTCTA	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(8488-8490)Cag>Tag		FAT atypical cadherin 1							108.0	102.0	104.0					4																	187539252		1900	4137	6037	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539252G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8488C>T	4.37:g.187539252G>A	ENSP00000406229:p.Gln2830*	HNSCC(5;0.00058)					p.Q2830*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8697	-			2830			Cadherin 26.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.8488C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	50	16.712450	0.99870	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.3344	0.90282	0.0:0.0:1.0:0.0	.	.	.	.	X	2830;2832	.	ENSP00000260147:Q2832X	Q	-	1	0	FAT1	187776246	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.657000	0.98554	2.635000	0.89317	0.650000	0.86243	CAG		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		35	72	0	0	0	0.004289	0	35	72				
EYS	346007	broad.mit.edu	37	6	66204916	66204916	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:66204916G>T	ENST00000370621.3	-	4	914	c.388C>A	c.(388-390)Cta>Ata	p.L130I	EYS_ENST00000370618.3_Missense_Mutation_p.L130I|EYS_ENST00000393380.2_Missense_Mutation_p.L130I|EYS_ENST00000342421.5_Missense_Mutation_p.L130I|EYS_ENST00000370616.2_Missense_Mutation_p.L130I|EYS_ENST00000503581.1_Missense_Mutation_p.L130I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	130					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCCTTTTAGTCTGCAGCCA	0.393																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(388-390)Cta>Ata		eyes shut homolog (Drosophila)							71.0	64.0	66.0					6																	66204916		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204916G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.388C>A	6.37:g.66204916G>T	ENSP00000359655:p.Leu130Ile					EYS_ENST00000370621.3_Missense_Mutation_p.L130I|EYS_ENST00000342421.5_Missense_Mutation_p.L130I|EYS_ENST00000370618.3_Missense_Mutation_p.L130I|EYS_ENST00000393380.2_Missense_Mutation_p.L130I|EYS_ENST00000370616.2_Missense_Mutation_p.L130I	p.L130I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	925	-			130					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.388C>A		.	.	.	.	.	.	.	.	.	.	G	12.65	2.000397	0.35320	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89810	-1.57;-1.56;-1.56;-2.57;-2.53;-2.53	4.92	3.08	0.35506	.	.	.	.	.	T	0.64789	0.2630	N	0.19112	0.55	0.09310	N	1	P;P;P	0.45715	0.851;0.865;0.787	B;B;B	0.43301	0.415;0.391;0.219	T	0.58020	-0.7710	9	0.25106	T	0.35	.	3.5866	0.07973	0.0943:0.1743:0.5645:0.167	.	130;130;130	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	130	ENSP00000424243:L130I;ENSP00000359655:L130I;ENSP00000359650:L130I;ENSP00000377042:L130I;ENSP00000341818:L130I;ENSP00000359652:L130I	ENSP00000341818:L130I	L	-	1	2	EYS	66261637	0.106000	0.21978	0.009000	0.14445	0.928000	0.56348	0.787000	0.26858	0.542000	0.28846	0.591000	0.81541	CTA		0.393	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		11	23	1	0	6.40141e-05	0.010729	6.97615e-05	11	23				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	19	0	0	0	0.004672	0	3	19				
CEP350	9857	broad.mit.edu	37	1	179989427	179989427	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:179989427G>C	ENST00000367607.3	+	12	2936	c.2518G>C	c.(2518-2520)Gaa>Caa	p.E840Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	840					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCAGAATTGAAAGTGAAGC	0.448																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2518-2520)Gaa>Caa		centrosomal protein 350kDa							135.0	140.0	139.0					1																	179989427		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989427G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2518G>C	1.37:g.179989427G>C	ENSP00000356579:p.Glu840Gln						p.E840Q	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	2936	+			840					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2518G>C	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628118	0.87560	.	.	ENSG00000135837	ENST00000367607	T	0.48522	0.81	6.02	6.02	0.97574	.	0.000000	0.50627	D	0.000116	T	0.61739	0.2371	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.54036	-0.8353	9	.	.	.	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	840;840	E7EU22;Q5VT06	.;CE350_HUMAN	Q	840	ENSP00000356579:E840Q	.	E	+	1	0	CEP350	178256050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.148000	0.94652	2.865000	0.98341	0.655000	0.94253	GAA		0.448	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		57	169	0	0	0	0.014410	0	57	169				
TRIM26	7726	broad.mit.edu	37	6	30154334	30154334	+	Splice_Site	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:30154334C>T	ENST00000454678.2	-	10	1375	c.939G>A	c.(937-939)gtG>gtA	p.V313V	TRIM26_ENST00000437089.1_Splice_Site_p.V313V|TRIM26_ENST00000453195.1_Splice_Site_p.V313V	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	313	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						GGGTGACGCTCACTGTGGGGA	0.468																																						ENST00000454678.2																			0				lung(1)|ovary(2)	3						c.e10-1		tripartite motif containing 26							38.0	36.0	37.0					6																	30154334		1509	2708	4217	SO:0001630	splice_region_variant	7726						DNA binding|zinc ion binding	g.chr6:30154334C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.938-1G>A	6.37:g.30154334C>T						TRIM26_ENST00000437089.1_Splice_Site_p.V313_splice|TRIM26_ENST00000453195.1_Splice_Site_p.V313_splice	p.V313_splice	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN			10	1375	-			313			B30.2/SPRY.		A6NG96|Q5SRL2	Splice_Site	SNP	ENST00000454678.2	37	c.937_splice	CCDS4678.1																																																																																				0.468	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449	Silent	15	41	0	0	0	0.003163	0	15	41				
USP8	9101	broad.mit.edu	37	15	50774167	50774167	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:50774167G>C	ENST00000396444.3	+	11	2046	c.1708G>C	c.(1708-1710)Gat>Cat	p.D570H	USP8_ENST00000425032.3_Missense_Mutation_p.D493H|USP8_ENST00000433963.1_Missense_Mutation_p.D570H|USP8_ENST00000307179.4_Missense_Mutation_p.D570H	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	570					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTGTAGAAGATAGGGGGAA	0.418																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1708-1710)Gat>Cat		ubiquitin specific peptidase 8							51.0	51.0	51.0					15																	50774167		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50774167G>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1708G>C	15.37:g.50774167G>C	ENSP00000379721:p.Asp570His					USP8_ENST00000396444.3_Missense_Mutation_p.D570H|USP8_ENST00000425032.3_Missense_Mutation_p.D493H|USP8_ENST00000307179.4_Missense_Mutation_p.D570H	p.D570H	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	12	2208	+			570					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1708G>C	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430619	0.43122	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.77	4.77	0.60923	.	0.306106	0.28796	N	0.014110	T	0.45637	0.1352	L	0.27053	0.805	0.35301	D	0.783044	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.56700	0.804;0.804;0.804	T	0.57568	-0.7789	10	0.46703	T	0.11	-9.5826	15.5808	0.76439	0.0:0.0:1.0:0.0	.	493;570;570	B4DKA8;P40818;A8K8N5	.;UBP8_HUMAN;.	H	570;570;570;493	ENSP00000379721:D570H;ENSP00000405537:D570H;ENSP00000302239:D570H;ENSP00000412682:D493H	ENSP00000302239:D570H	D	+	1	0	USP8	48561459	1.000000	0.71417	0.889000	0.34880	0.093000	0.18481	3.899000	0.56288	2.185000	0.69588	0.557000	0.71058	GAT		0.418	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		10	29	0	0	0	0.006214	0	10	29				
DFNB31	25861	broad.mit.edu	37	9	117266938	117266938	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:117266938C>T	ENST00000362057.3	-	1	312	c.144G>A	c.(142-144)gcG>gcA	p.A48A	DFNB31_ENST00000480518.1_5'Flank|DFNB31_ENST00000374057.3_Silent_p.A48A|DFNB31_ENST00000265134.6_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	48					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCTCAGCAGCGCGGTCAGCG	0.746																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(142-144)gcG>gcA		deafness, autosomal recessive 31							32.0	26.0	28.0					9																	117266938		2200	4297	6497	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117266938C>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.144G>A	9.37:g.117266938C>T						DFNB31_ENST00000374057.3_Silent_p.A48A	p.A48A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			1	312	-			48					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.144G>A	CCDS6806.1																																																																																				0.746	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		8	33	0	0	0	0.003080	0	8	33				
GPR112	139378	broad.mit.edu	37	X	135431707	135431707	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:135431707A>T	ENST00000394143.1	+	6	6133	c.5842A>T	c.(5842-5844)Aac>Tac	p.N1948Y	GPR112_ENST00000412101.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000287534.4_Missense_Mutation_p.N1885Y|GPR112_ENST00000394141.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000370652.1_Missense_Mutation_p.N1948Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1948					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTCTTCCTAACCATGGGCT	0.418																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5842-5844)Aac>Tac		G protein-coupled receptor 112							118.0	111.0	113.0					X																	135431707		2203	4299	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431707A>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5842A>T	X.37:g.135431707A>T	ENSP00000377699:p.Asn1948Tyr					GPR112_ENST00000412101.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000394141.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000370652.1_Missense_Mutation_p.N1948Y|GPR112_ENST00000287534.4_Missense_Mutation_p.N1885Y	p.N1948Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	6133	+	Acute lymphoblastic leukemia(192;0.000127)		1948					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5842A>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	2.435	-0.329841	0.05314	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29655	1.59;1.59;1.56;1.7;1.56	3.94	1.28	0.21552	.	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B;B;B	0.31351	0.32;0.115;0.029	B;B;B	0.28385	0.089;0.055;0.001	T	0.25882	-1.0119	9	0.27082	T	0.32	.	6.3649	0.21449	0.5989:0.0:0.0:0.4011	.	1885;1743;1948	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Y	1948;1948;1743;1885;1743	ENSP00000377699:N1948Y;ENSP00000359686:N1948Y;ENSP00000416526:N1743Y;ENSP00000287534:N1885Y;ENSP00000377697:N1743Y	ENSP00000287534:N1885Y	N	+	1	0	GPR112	135259373	0.009000	0.17119	0.036000	0.18154	0.122000	0.20287	1.067000	0.30616	-0.028000	0.13850	-0.583000	0.04132	AAC		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			6	147	0	0	0	0.001984	0	6	147				
YWHAE	7531	broad.mit.edu	37	17	1303386	1303386	+	Missense_Mutation	SNP	G	G	C	rs11552915		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:1303386G>C	ENST00000264335.8	-	1	286	c.19C>G	c.(19-21)Ctg>Gtg	p.L7V	YWHAE_ENST00000498643.1_5'UTR|YWHAE_ENST00000571732.1_De_novo_Start_OutOfFrame|YWHAE_ENST00000573026.1_Missense_Mutation_p.L7V|YWHAE_ENST00000575977.1_Missense_Mutation_p.L7V	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	7					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TGGTACACCAGATCCTCTCGA	0.662			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000571732.1				Dom	yes		17	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	Miller-Dieker lissencephaly syndrome	M	"""FAM22a, FAM22B"""		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14								tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide							66.0	64.0	65.0					17																	1303386		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1303386G>C	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.19C>G	17.37:g.1303386G>C	ENSP00000264335:p.Leu7Val					YWHAE_ENST00000573026.1_Missense_Mutation_p.L7V|YWHAE_ENST00000264335.8_Missense_Mutation_p.L7V|YWHAE_ENST00000575977.1_Missense_Mutation_p.L7V|YWHAE_ENST00000498643.1_5'UTR				P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	0	128	-								B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Translation_Start_Site	SNP	ENST00000264335.8	37		CCDS11001.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965798	0.34659	.	.	ENSG00000108953	ENST00000264335	T	0.50548	0.74	4.66	4.66	0.58398	14-3-3 domain (4);	0.209023	0.28252	U	0.016034	T	0.47801	0.1465	M	0.73430	2.235	0.44123	D	0.996908	B	0.09022	0.002	B	0.12156	0.007	T	0.43893	-0.9363	10	0.17369	T	0.5	1.7206	15.0746	0.72066	0.0:0.0:1.0:0.0	rs11552915;rs11552915	7	P62258	1433E_HUMAN	V	7	ENSP00000264335:L7V	ENSP00000264335:L7V	L	-	1	2	YWHAE	1250136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.169000	0.58223	2.426000	0.82243	0.484000	0.47621	CTG		0.662	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		19	99	0	0	0	0.012319	0	19	99				
LRP1	4035	broad.mit.edu	37	12	57538855	57538855	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:57538855G>A	ENST00000243077.3	+	5	1015	c.549G>A	c.(547-549)ccG>ccA	p.P183P	RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000554174.1_Silent_p.P183P|RP11-545N8.3_ENST00000554476.1_RNA|LRP1_ENST00000338962.4_Silent_p.P183P|LRP1_ENST00000553277.1_Silent_p.P183P	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	183	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTGCAGCCGGATAACCGCT	0.572																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(547-549)ccG>ccA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						63.0	54.0	57.0					12																	57538855		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57538855G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.549G>A	12.37:g.57538855G>A						RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000553277.1_Silent_p.P183P|LRP1_ENST00000554174.1_Silent_p.P183P|LRP1_ENST00000338962.4_Silent_p.P183P	p.P183P	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	5	1015	+			183			EGF-like 2; calcium-binding (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.549G>A	CCDS8932.1																																																																																				0.572	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		17	31	0	0	0	0.004007	0	17	31				
SACS	26278	broad.mit.edu	37	13	23913048	23913048	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:23913048A>C	ENST00000382292.3	-	9	5240	c.4967T>G	c.(4966-4968)gTg>gGg	p.V1656G	SACS_ENST00000382298.3_Missense_Mutation_p.V1656G|SACS_ENST00000402364.1_Missense_Mutation_p.V906G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1656					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTCACTCACTTTTGCTTC	0.398																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4966-4968)gTg>gGg		spastic ataxia of Charlevoix-Saguenay (sacsin)							135.0	126.0	129.0					13																	23913048		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913048A>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4967T>G	13.37:g.23913048A>C	ENSP00000371729:p.Val1656Gly					SACS_ENST00000382292.3_Missense_Mutation_p.V1656G|SACS_ENST00000402364.1_Missense_Mutation_p.V906G	p.V1656G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5555	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1656					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4967T>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	0.660	-0.806046	0.02819	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93426	-3.22;-3.22;-3.22	5.84	5.84	0.93424	ATPase-like, ATP-binding domain (1);	0.432547	0.23286	N	0.049843	D	0.87362	0.6158	N	0.17082	0.46	0.47094	D	0.999314	B	0.12013	0.005	B	0.11329	0.006	T	0.82820	-0.0268	10	0.20046	T	0.44	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	1656	Q9NZJ4	SACS_HUMAN	G	1656;906;1656	ENSP00000371729:V1656G;ENSP00000385844:V906G;ENSP00000371735:V1656G	ENSP00000371729:V1656G	V	-	2	0	SACS	22811048	0.975000	0.34042	1.000000	0.80357	0.031000	0.12232	2.553000	0.45837	2.228000	0.72767	0.533000	0.62120	GTG		0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		16	41	0	0	0	0.004990	0	16	41				
ALLC	55821	broad.mit.edu	37	2	3749215	3749215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:3749215C>T	ENST00000252505.3	+	11	1126	c.964C>T	c.(964-966)Cca>Tca	p.P322S	ALLC_ENST00000471711.1_3'UTR|AC010907.5_ENST00000441632.1_RNA	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	341					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACCACTGCTTCCAGTGACCAA	0.488										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(964-966)Cca>Tca		allantoicase							65.0	64.0	64.0					2																	3749215		1949	4150	6099	SO:0001583	missense	55821						allantoicase activity	g.chr2:3749215C>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.964C>T	2.37:g.3749215C>T	ENSP00000252505:p.Pro322Ser	HNSCC(21;0.051)				ALLC_ENST00000471711.1_3'UTR	p.P322S	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	11	1126	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	341					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.964C>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	C	7.149	0.583357	0.13749	.	.	ENSG00000151360	ENST00000252505	.	.	.	4.53	3.37	0.38596	Allantoicase domain (1);Galactose-binding domain-like (1);	0.117653	0.64402	D	0.000014	T	0.42131	0.1189	L	0.58510	1.815	0.33921	D	0.640918	B	0.30763	0.294	B	0.28305	0.088	T	0.54938	-0.8218	9	0.45353	T	0.12	-12.8194	4.6151	0.12422	0.0:0.7172:0.0:0.2828	.	341	Q8N6M5	ALLC_HUMAN	S	322	.	ENSP00000252505:P322S	P	+	1	0	ALLC	3727090	0.720000	0.27996	0.216000	0.23742	0.004000	0.04260	2.314000	0.43743	2.218000	0.71995	0.655000	0.94253	CCA		0.488	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			6	13	0	0	0	0.001168	0	6	13				
LMTK2	22853	broad.mit.edu	37	7	97832936	97832936	+	Silent	SNP	G	G	A	rs146973469	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:97832936G>A	ENST00000297293.5	+	12	4451	c.4158G>A	c.(4156-4158)ccG>ccA	p.P1386P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1386					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGTGCGGCCCGGACCTGAGCG	0.597																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(4156-4158)ccG>ccA		lemur tyrosine kinase 2		G		0,4406		0,0,2203	28.0	26.0	26.0		4158	-10.3	0.0	7	dbSNP_134	26	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	LMTK2	NM_014916.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1386/1504	97832936	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97832936G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4158G>A	7.37:g.97832936G>A							p.P1386P	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			12	4451	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1386					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.4158G>A	CCDS5654.1																																																																																				0.597	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		11	26	0	0	0	0.010729	0	11	26				
LEPR	3953	broad.mit.edu	37	1	66101886	66101886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:66101886G>C	ENST00000349533.6	+	20	2871	c.2686G>C	c.(2686-2688)Gag>Cag	p.E896Q	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGAAACGTTTGAGCATCTTTT	0.348																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2686-2688)Gag>Cag		leptin receptor							128.0	132.0	131.0					1																	66101886		2203	4299	6502	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66101886G>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2686G>C	1.37:g.66101886G>C	ENSP00000330393:p.Glu896Gln					LEPR_ENST00000406510.3_5'UTR	p.E896Q	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	2871	+			896			Required for JAK2 activation (By similarity).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2686G>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500788	0.85176	.	.	ENSG00000116678	ENST00000349533	T	0.62498	0.02	5.79	5.79	0.91817	.	0.045699	0.85682	D	0.000000	T	0.64034	0.2562	L	0.57536	1.79	0.80722	D	1	D	0.54601	0.967	P	0.50537	0.643	T	0.67573	-0.5636	10	0.72032	D	0.01	-18.647	20.0281	0.97530	0.0:0.0:1.0:0.0	.	896	P48357	LEPR_HUMAN	Q	896	ENSP00000330393:E896Q	ENSP00000330393:E896Q	E	+	1	0	LEPR	65874474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.681000	0.74523	2.727000	0.93392	0.655000	0.94253	GAG		0.348	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		29	95	0	0	0	0.005443	0	29	95				
TTBK1	84630	broad.mit.edu	37	6	43214425	43214425	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:43214425G>A	ENST00000259750.4	+	2	110	c.27G>A	c.(25-27)aaG>aaA	p.K9K	TTBK1_ENST00000304139.5_5'Flank	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	9					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCGCCCTTAAGGACGAAACCA	0.672																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(25-27)aaG>aaA		tau tubulin kinase 1							34.0	32.0	33.0					6																	43214425		2203	4300	6503	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43214425G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.27G>A	6.37:g.43214425G>A							p.K9K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		2	110	+			9					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.27G>A	CCDS34455.1																																																																																				0.672	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			10	34	0	0	0	0.006214	0	10	34				
LDHC	3948	broad.mit.edu	37	11	18456337	18456337	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:18456337C>T	ENST00000541669.1	+	5	580	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	LDHC_ENST00000535809.1_Missense_Mutation_p.R157C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000280704.4_Missense_Mutation_p.R157C|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000537486.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	157					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCTGTAACTCGTGTAATTGG	0.368																																						ENST00000541669.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(469-471)Cgt>Tgt		lactate dehydrogenase C	NADH(DB00157)						179.0	178.0	178.0					11																	18456337		2199	4293	6492	SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18456337C>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.469C>T	11.37:g.18456337C>T	ENSP00000437783:p.Arg157Cys					LDHC_ENST00000280704.4_Missense_Mutation_p.R157C|LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000535809.1_Missense_Mutation_p.R157C	p.R157C			P07864	LDHC_HUMAN			5	580	+			157					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	ENST00000541669.1	37	c.469C>T	CCDS7840.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527764	0.27299	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000544105;ENST00000535809	D;D;D;D;D;D	0.92299	-2.73;-2.73;-3.01;-2.73;-2.73;-2.73	4.67	1.72	0.24424	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.179564	0.50627	D	0.000104	D	0.93090	0.7800	H	0.98256	4.185	0.80722	D	1	B;P;P	0.49559	0.036;0.925;0.688	B;B;B	0.36534	0.002;0.227;0.097	D	0.90728	0.4640	10	0.62326	D	0.03	-6.3129	8.7069	0.34360	0.2674:0.6608:0.0:0.0718	.	157;157;157	F5H155;G3XAP5;P07864	.;.;LDHC_HUMAN	C	157;157;99;143;157;157	ENSP00000437783:R157C;ENSP00000280704:R157C;ENSP00000443414:R99C;ENSP00000439555:R143C;ENSP00000439060:R157C;ENSP00000443997:R157C	ENSP00000280704:R157C	R	+	1	0	LDHC	18412913	0.998000	0.40836	0.423000	0.26634	0.463000	0.32649	3.121000	0.50438	0.195000	0.20347	-0.899000	0.02877	CGT		0.368	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		40	75	0	0	0	0.006999	0	40	75				
SHROOM3	57619	broad.mit.edu	37	4	77675521	77675521	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:77675521C>T	ENST00000296043.6	+	7	4838	c.3885C>T	c.(3883-3885)ctC>ctT	p.L1295L	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1295					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCACCATCTCACCCCTCGTT	0.542																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3883-3885)ctC>ctT		shroom family member 3							141.0	137.0	138.0					4																	77675521		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77675521C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.3885C>T	4.37:g.77675521C>T							p.L1295L	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	4838	+			1295					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.3885C>T	CCDS3579.2																																																																																				0.542	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		41	133	0	0	0	0.007835	0	41	133				
UNC13B	10497	broad.mit.edu	37	9	35385812	35385812	+	Splice_Site	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35385812T>C	ENST00000378495.3	+	22	2940		c.e22+2		UNC13B_ENST00000378496.4_Splice_Site|UNC13B_ENST00000396787.1_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGAATGAAGGTAAGAAATGGA	0.483																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.e22+2		unc-13 homolog B (C. elegans)							67.0	68.0	68.0					9																	35385812		2203	4300	6503	SO:0001630	splice_region_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35385812T>C	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2718+2T>C	9.37:g.35385812T>C						UNC13B_ENST00000396787.1_Splice_Site|UNC13B_ENST00000378496.4_Splice_Site		NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		22	2940	+	all_epithelial(49;0.212)							Q5VYM8	Splice_Site	SNP	ENST00000378495.3	37		CCDS6579.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816838	0.90790	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3729	0.74581	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC13B	35375812	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.166000	0.71896	2.088000	0.63022	0.533000	0.62120	.		0.483	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	Intron	27	97	0	0	0	0.006320	0	27	97				
ACACB	32	broad.mit.edu	37	12	109673414	109673414	+	Missense_Mutation	SNP	G	G	C	rs374477026		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:109673414G>C	ENST00000338432.7	+	33	4527	c.4408G>C	c.(4408-4410)Gaa>Caa	p.E1470Q	ACACB_ENST00000377848.3_Missense_Mutation_p.E1470Q|ACACB_ENST00000543201.1_Missense_Mutation_p.E136Q|ACACB_ENST00000377854.5_Missense_Mutation_p.E1400Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1470					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTTGCAGAAAGAATTTCCCAA	0.328																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4408-4410)Gaa>Caa		acetyl-CoA carboxylase beta	Biotin(DB00121)						137.0	125.0	129.0					12																	109673414		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109673414G>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4408G>C	12.37:g.109673414G>C	ENSP00000341044:p.Glu1470Gln					ACACB_ENST00000377854.5_Missense_Mutation_p.E1400Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1470Q|ACACB_ENST00000543201.1_Missense_Mutation_p.E136Q	p.E1470Q			O00763	ACACB_HUMAN			33	4527	+			1470					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4408G>C	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059777	0.55325	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.09	5.09	0.68999	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	L	0.37561	1.115	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.33979	-0.9847	10	0.06625	T	0.88	.	18.8809	0.92356	0.0:0.0:1.0:0.0	.	1470	O00763	ACACB_HUMAN	Q	1470;1470;1400;701;136	ENSP00000341044:E1470Q;ENSP00000367079:E1470Q;ENSP00000367085:E1400Q;ENSP00000444075:E136Q	ENSP00000341044:E1470Q	E	+	1	0	ACACB	108157797	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.772000	0.98984	2.546000	0.85860	0.609000	0.83330	GAA		0.328	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		12	20	0	0	0	0.013537	0	12	20				
ZNF449	203523	broad.mit.edu	37	X	134494925	134494925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:134494925C>T	ENST00000339249.4	+	5	1621	c.1481C>T	c.(1480-1482)aCt>aTt	p.T494I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	494					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACAAGTGTACTCATTGTTCT	0.393																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(1480-1482)aCt>aTt		zinc finger protein 449							148.0	146.0	147.0					X																	134494925		2203	4299	6502	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494925C>T	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1481C>T	X.37:g.134494925C>T	ENSP00000339585:p.Thr494Ile						p.T494I	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			5	1621	+	Acute lymphoblastic leukemia(192;6.56e-05)		494					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.1481C>T	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223338	0.22457	.	.	ENSG00000173275	ENST00000339249	T	0.18338	2.22	4.55	2.7	0.31948	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.264596	0.27000	N	0.021439	T	0.12902	0.0313	L	0.35487	1.065	0.80722	D	1	B	0.33044	0.395	B	0.35813	0.211	T	0.07849	-1.0751	10	0.87932	D	0	.	6.236	0.20764	0.1108:0.4252:0.464:0.0	.	494	Q6P9G9	ZN449_HUMAN	I	494	ENSP00000339585:T494I	ENSP00000339585:T494I	T	+	2	0	ZNF449	134322591	0.000000	0.05858	0.996000	0.52242	0.979000	0.70002	-0.322000	0.08007	0.457000	0.26962	0.529000	0.55759	ACT		0.393	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		92	135	0	0	0	0.014410	0	92	135				
TRIO	7204	broad.mit.edu	37	5	14406048	14406048	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:14406048A>G	ENST00000344204.4	+	32	4832	c.4808A>G	c.(4807-4809)gAg>gGg	p.E1603G	TRIO_ENST00000537187.1_Missense_Mutation_p.E1603G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1603					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCCTGAAGGAGCCCATTCAC	0.577																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(4807-4809)gAg>gGg		trio Rho guanine nucleotide exchange factor							51.0	47.0	48.0					5																	14406048		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14406048A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4808A>G	5.37:g.14406048A>G	ENSP00000339299:p.Glu1603Gly					TRIO_ENST00000537187.1_Missense_Mutation_p.E1603G	p.E1603G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			32	4832	+	Lung NSC(4;0.000742)		1603					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.4808A>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075012	0.76415	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.21361	2.01;2.01	5.32	5.32	0.75619	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	L	0.44542	1.39	0.58432	D	0.999997	B;D	0.57899	0.13;0.981	B;D	0.67900	0.098;0.954	T	0.05903	-1.0857	10	0.45353	T	0.12	.	15.299	0.73931	1.0:0.0:0.0:0.0	.	1603;1603	O75962-5;O75962	.;TRIO_HUMAN	G	1603;1603;1290	ENSP00000339299:E1603G;ENSP00000446348:E1603G	ENSP00000339299:E1603G	E	+	2	0	TRIO	14459048	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.263000	0.95617	2.011000	0.59026	0.528000	0.53228	GAG		0.577	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		10	25	0	0	0	0.006214	0	10	25				
NIN	51199	broad.mit.edu	37	14	51224285	51224285	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:51224285G>A	ENST00000382041.3	-	18	3653	c.3463C>T	c.(3463-3465)Ctg>Ttg	p.L1155L	NIN_ENST00000530997.2_Silent_p.L1155L|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Silent_p.L1155L|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Silent_p.L1155L|NIN_ENST00000245441.5_Silent_p.L1155L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1155					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTACTTCCCAGGTCCCGGACC	0.478			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(3463-3465)Ctg>Ttg		ninein (GSK3B interacting protein)							137.0	136.0	136.0					14																	51224285		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224285G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3463C>T	14.37:g.51224285G>A						NIN_ENST00000530997.2_Silent_p.L1155L|NIN_ENST00000453196.1_Silent_p.L1155L|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Silent_p.L1155L|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Silent_p.L1155L	p.L1155L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	3653	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1155					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.3463C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.586833	0.00872	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.78	2.59	0.31030	.	.	.	.	.	T	0.32675	0.0837	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20773	-1.0265	4	.	.	.	0.1681	6.6411	0.22909	0.0717:0.2563:0.5547:0.1173	.	.	.	.	L	645	.	.	P	-	2	0	NIN	50294035	0.002000	0.14202	0.001000	0.08648	0.160000	0.22226	0.518000	0.22847	0.713000	0.32060	0.563000	0.77884	CCT		0.478	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		23	208	0	0	0	0.014323	0	23	208				
COL14A1	7373	broad.mit.edu	37	8	121290786	121290786	+	Silent	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:121290786G>C	ENST00000297848.3	+	28	3720	c.3450G>C	c.(3448-3450)gtG>gtC	p.V1150V	COL14A1_ENST00000247781.3_Silent_p.V1055V|COL14A1_ENST00000309791.4_Silent_p.V1150V	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGATGATGTGAACAAAATCT	0.353																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3448-3450)gtG>gtC		collagen, type XIV, alpha 1							91.0	82.0	85.0					8																	121290786		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121290786G>C		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3450G>C	8.37:g.121290786G>C						COL14A1_ENST00000309791.4_Silent_p.V1150V|COL14A1_ENST00000247781.3_Silent_p.V1055V	p.V1150V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		28	3720	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1150			VWFA 2.			Silent	SNP	ENST00000297848.3	37	c.3450G>C	CCDS34938.1																																																																																				0.353	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		18	18	0	0	0	0.008871	0	18	18				
OTOP1	133060	broad.mit.edu	37	4	4199228	4199228	+	Missense_Mutation	SNP	C	C	G	rs566380189		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:4199228C>G	ENST00000296358.4	-	5	1357	c.1333G>C	c.(1333-1335)Gaa>Caa	p.E445Q		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	445					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAATGGATTCAAAGATGAAG	0.542																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1333-1335)Gaa>Caa		otopetrin 1							58.0	62.0	61.0					4																	4199228		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199228C>G	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1333G>C	4.37:g.4199228C>G	ENSP00000296358:p.Glu445Gln						p.E445Q	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1357	-			445					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1333G>C	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760213	0.49468	.	.	ENSG00000163982	ENST00000296358	T	0.22336	1.96	4.76	4.76	0.60689	.	0.105487	0.64402	D	0.000005	T	0.51805	0.1696	M	0.82716	2.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.60224	-0.7305	10	0.87932	D	0	-2.5669	18.1569	0.89694	0.0:1.0:0.0:0.0	.	445	Q7RTM1	OTOP1_HUMAN	Q	445	ENSP00000296358:E445Q	ENSP00000296358:E445Q	E	-	1	0	OTOP1	4250129	1.000000	0.71417	0.767000	0.31495	0.226000	0.24999	5.574000	0.67424	2.365000	0.80145	0.195000	0.17529	GAA		0.542	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		10	62	0	0	0	0.006214	0	10	62				
TRIP11	9321	broad.mit.edu	37	14	92461767	92461767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:92461767G>A	ENST00000267622.4	-	14	5358	c.4985C>T	c.(4984-4986)tCt>tTt	p.S1662F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1662				QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTTCCTGAGAGACAGAAAG	0.458			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4984-4986)tCt>tTt		thyroid hormone receptor interactor 11							121.0	102.0	109.0					14																	92461767		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92461767G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4985C>T	14.37:g.92461767G>A	ENSP00000267622:p.Ser1662Phe						p.S1662F	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	14	5358	-			1662	QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135).				B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.4985C>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063501	0.76187	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04862	3.54	5.82	5.82	0.92795	.	0.115069	0.64402	D	0.000010	T	0.25901	0.0631	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;0.997	D;D	0.76575	0.988;0.975	T	0.00124	-1.2023	10	0.31617	T	0.26	.	20.0951	0.97834	0.0:0.0:1.0:0.0	.	1398;1662	F5H1Z0;Q15643	.;TRIPB_HUMAN	F	1662;1398	ENSP00000267622:S1662F	ENSP00000267622:S1662F	S	-	2	0	TRIP11	91531520	1.000000	0.71417	0.438000	0.26821	0.682000	0.39822	9.644000	0.98468	2.766000	0.95052	0.650000	0.86243	TCT		0.458	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			24	23	0	0	0	0.014323	0	24	23				
DUS3L	56931	broad.mit.edu	37	19	5785684	5785684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:5785684A>T	ENST00000309061.7	-	11	1777	c.1681T>A	c.(1681-1683)Tgg>Agg	p.W561R	PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.W319R	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	561							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCCGAGCCCCAGTGCTCCAGG	0.677																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1681-1683)Tgg>Agg		dihydrouridine synthase 3-like (S. cerevisiae)							31.0	32.0	32.0					19																	5785684		2202	4296	6498	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5785684A>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1681T>A	19.37:g.5785684A>T	ENSP00000311977:p.Trp561Arg					DUS3L_ENST00000320699.8_Missense_Mutation_p.W319R	p.W561R	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			11	1777	-			561					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1681T>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400096	0.83120	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.28454	1.61;1.61	4.45	4.45	0.53987	.	0.062125	0.64402	D	0.000001	T	0.55784	0.1942	M	0.79693	2.465	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.61744	-0.7000	10	0.87932	D	0	-21.6883	11.6902	0.51510	1.0:0.0:0.0:0.0	.	319;561	Q96G46-3;Q96G46	.;DUS3L_HUMAN	R	561;319	ENSP00000311977:W561R;ENSP00000315558:W319R	ENSP00000311977:W561R	W	-	1	0	DUS3L	5736684	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.840000	0.92125	1.667000	0.50832	0.454000	0.30748	TGG		0.677	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		6	18	0	0	0	0.001984	0	6	18				
ROPN1B	152015	broad.mit.edu	37	3	125694519	125694519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:125694519C>G	ENST00000514116.1	+	4	545	c.230C>G	c.(229-231)tCt>tGt	p.S77C	ROPN1B_ENST00000251776.4_Missense_Mutation_p.S77C|ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000511082.1_5'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	77					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		ATCCTGCATTCTCAGGTAAGG	0.567																																						ENST00000514116.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8						c.(229-231)tCt>tGt		rhophilin associated tail protein 1B							79.0	68.0	72.0					3																	125694519		2203	4300	6503	SO:0001583	missense	152015				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	g.chr3:125694519C>G	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.230C>G	3.37:g.125694519C>G	ENSP00000426271:p.Ser77Cys					ROPN1B_ENST00000251776.4_Missense_Mutation_p.S77C|ROPN1B_ENST00000511082.1_5'UTR|ROPN1B_ENST00000505382.1_5'UTR	p.S77C			Q9BZX4	ROP1B_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	4	545	+			77					D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	c.230C>G	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	C	7.399	0.632462	0.14322	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000513830;ENST00000508088	T;T;T;T	0.47177	1.93;1.93;1.42;0.85	2.76	1.85	0.25348	.	0.113450	0.40385	N	0.001116	T	0.32793	0.0841	L	0.29908	0.895	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.10450	0.002;0.005	T	0.13899	-1.0492	10	0.87932	D	0	-36.9239	8.0851	0.30767	0.0:0.7477:0.2523:0.0	.	77;77	B7Z7H1;Q9BZX4	.;ROP1B_HUMAN	C	77	ENSP00000426271:S77C;ENSP00000251776:S77C;ENSP00000425548:S77C;ENSP00000423058:S77C	ENSP00000251776:S77C	S	+	2	0	ROPN1B	127177209	1.000000	0.71417	0.993000	0.49108	0.538000	0.34931	2.782000	0.47758	0.426000	0.26116	-0.914000	0.02751	TCT		0.567	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		18	42	0	0	0	0.006122	0	18	42				
AP3B2	8120	broad.mit.edu	37	15	83335612	83335612	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:83335612C>T	ENST00000261722.3	-	15	1946	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R580H|AP3B2_ENST00000535348.1_Missense_Mutation_p.R548H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	580					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCGGGTGAAGCGCGCCCGGTC	0.597																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1738-1740)cGc>cAc		adaptor-related protein complex 3, beta 2 subunit							64.0	72.0	69.0					15																	83335612		1954	4131	6085	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83335612C>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1739G>A	15.37:g.83335612C>T	ENSP00000261722:p.Arg580His					AP3B2_ENST00000535348.1_Missense_Mutation_p.R548H|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R580H	p.R580H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		15	1946	-			580					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1739G>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	33	5.222526	0.95139	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.27890	1.64;1.64;1.64	5.84	4.92	0.64577	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.90252	3.1	0.80722	D	1	B;D;D	0.89917	0.302;1.0;1.0	B;D;D	0.97110	0.066;1.0;0.999	T	0.71866	-0.4463	10	0.62326	D	0.03	-16.9405	15.1021	0.72288	0.0:0.932:0.0:0.068	.	548;580;580	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	H	580;548;580	ENSP00000261722:R580H;ENSP00000438721:R548H;ENSP00000440984:R580H	ENSP00000261722:R580H	R	-	2	0	AP3B2	81132667	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	7.794000	0.85869	1.475000	0.48197	0.655000	0.94253	CGC		0.597	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			17	66	0	0	0	0.006122	0	17	66				
ZNF622	90441	broad.mit.edu	37	5	16465329	16465329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:16465329G>A	ENST00000308683.2	-	1	572	c.446C>T	c.(445-447)cCa>cTa	p.P149L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	149					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGCAGGCGCTGGGGGCGCCTT	0.652																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(445-447)cCa>cTa		zinc finger protein 622							81.0	83.0	83.0					5																	16465329		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465329G>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.446C>T	5.37:g.16465329G>A	ENSP00000310042:p.Pro149Leu						p.P149L	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			1	572	-			149						Missense_Mutation	SNP	ENST00000308683.2	37	c.446C>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425370	0.25639	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.46	1.67	0.24075	.	1.157390	0.06224	N	0.687249	T	0.30135	0.0755	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24941	-1.0146	9	0.19147	T	0.46	-24.2292	7.6932	0.28579	0.4416:0.0:0.5584:0.0	.	149	Q969S3	ZN622_HUMAN	L	149	.	ENSP00000310042:P149L	P	-	2	0	ZNF622	16518329	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	0.832000	0.27490	0.140000	0.18849	0.650000	0.86243	CCA		0.652	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		65	92	0	0	0	0.014410	0	65	92				
APBB1	322	broad.mit.edu	37	11	6431880	6431880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:6431880G>C	ENST00000609360.1	-	2	797	c.698C>G	c.(697-699)tCc>tGc	p.S233C	APBB1_ENST00000389906.2_Missense_Mutation_p.S233C|APBB1_ENST00000299402.6_Missense_Mutation_p.S233C|APBB1_ENST00000311051.3_Missense_Mutation_p.S233C	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	233					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGAGCCATAGGAGGGGCTGCC	0.592																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(697-699)tCc>tGc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							55.0	55.0	55.0					11																	6431880		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6431880G>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.698C>G	11.37:g.6431880G>C	ENSP00000477213:p.Ser233Cys					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.S233C|APBB1_ENST00000299402.6_Missense_Mutation_p.S233C	p.S233C	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	797	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	233					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.698C>G		.	.	.	.	.	.	.	.	.	.	G	19.41	3.822339	0.71028	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758	T;T;T	0.26518	1.73;1.73;1.74	5.23	5.23	0.72850	.	0.253842	0.33005	N	0.005384	T	0.45236	0.1332	L	0.46157	1.445	0.32208	N	0.576908	D	0.89917	1.0	D	0.79784	0.993	T	0.53781	-0.8390	10	0.72032	D	0.01	-16.941	16.3499	0.83199	0.0:0.0:1.0:0.0	.	233	O00213-2	.	C	233;233;233;82	ENSP00000299402:S233C;ENSP00000311912:S233C;ENSP00000374556:S233C	ENSP00000299402:S233C	S	-	2	0	APBB1	6388456	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.418000	0.66429	2.451000	0.82905	0.393000	0.25936	TCC		0.592	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		11	50	0	0	0	0.010729	0	11	50				
ASPA	443	broad.mit.edu	37	17	3385074	3385074	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:3385074G>C	ENST00000263080.2	+	2	572	c.414G>C	c.(412-414)caG>caC	p.Q138H	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.Q138H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTTTAATTCAGATGTTTCATT	0.318																																						ENST00000263080.2																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17						c.(412-414)caG>caC		aspartoacylase	L-Aspartic Acid(DB00128)						55.0	52.0	53.0					17																	3385074		2203	4299	6502	SO:0001583	missense	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3385074G>C	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.414G>C	17.37:g.3385074G>C	ENSP00000263080:p.Gln138His					ASPA_ENST00000456349.2_Missense_Mutation_p.Q138H|SPATA22_ENST00000541913.1_Intron	p.Q138H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN			2	572	+			138						Missense_Mutation	SNP	ENST00000263080.2	37	c.414G>C	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	g	6.871	0.530148	0.13127	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97731	-4.51;-4.51	5.61	2.49	0.30216	.	0.000000	0.85682	D	0.000000	D	0.94961	0.8370	L	0.41573	1.285	0.80722	D	1	P	0.47762	0.9	P	0.47573	0.55	D	0.90909	0.4774	10	0.13108	T	0.6	-11.0963	8.4731	0.32997	0.3522:0.0:0.6478:0.0	.	138	P45381	ACY2_HUMAN	H	138	ENSP00000409976:Q138H;ENSP00000263080:Q138H	ENSP00000263080:Q138H	Q	+	3	2	ASPA	3331824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.188000	0.32102	0.375000	0.24679	0.557000	0.71058	CAG		0.318	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		3	22	0	0	0	0.004672	0	3	22				
GYG1	2992	broad.mit.edu	37	3	148712030	148712030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:148712030G>A	ENST00000345003.4	+	2	409	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	GYG1_ENST00000296048.6_Missense_Mutation_p.V37M|GYG1_ENST00000484197.1_Missense_Mutation_p.V37M|GYG1_ENST00000483267.1_Missense_Mutation_p.V37M	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	37					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAGGCTGGTCGTGCTCGCCAC	0.587																																						ENST00000345003.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8						c.(109-111)Gtg>Atg		glycogenin 1							72.0	69.0	70.0					3																	148712030		2203	4300	6503	SO:0001583	missense	2992				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding	g.chr3:148712030G>A	AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.109G>A	3.37:g.148712030G>A	ENSP00000340736:p.Val37Met					GYG1_ENST00000296048.6_Missense_Mutation_p.V37M|GYG1_ENST00000484197.1_Missense_Mutation_p.V37M|GYG1_ENST00000483267.1_Missense_Mutation_p.V37M	p.V37M	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		2	409	+			37					D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	c.109G>A	CCDS3139.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291027	0.80914	.	.	ENSG00000163754	ENST00000345003;ENST00000296048;ENST00000483267;ENST00000484197;ENST00000461191	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.31	5.31	0.75309	.	0.179846	0.48286	D	0.000185	T	0.81341	0.4802	M	0.80982	2.52	0.54753	D	0.999983	P;D;D;D	0.63046	0.823;0.987;0.979;0.992	B;P;P;P	0.52881	0.29;0.571;0.712;0.668	D	0.84506	0.0619	10	0.72032	D	0.01	-17.9699	18.9832	0.92762	0.0:0.0:1.0:0.0	.	37;37;37;37	G5E9W8;D3DNH0;P46976-2;P46976	.;.;.;GLYG_HUMAN	M	37	ENSP00000340736:V37M;ENSP00000296048:V37M;ENSP00000419499:V37M;ENSP00000420683:V37M;ENSP00000420247:V37M	ENSP00000296048:V37M	V	+	1	0	GYG1	150194720	1.000000	0.71417	0.928000	0.36995	0.378000	0.30076	9.378000	0.97191	2.475000	0.83589	0.650000	0.86243	GTG		0.587	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		18	65	0	0	0	0.012319	0	18	65				
MYOCD	93649	broad.mit.edu	37	17	12642624	12642624	+	Silent	SNP	A	A	T	rs370115389		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:12642624A>T	ENST00000343344.4	+	7	696	c.696A>T	c.(694-696)atA>atT	p.I232I	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.I136I|MYOCD_ENST00000425538.1_Silent_p.I232I			Q8IZQ8	MYCD_HUMAN	myocardin	232					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCACCCCCATAGCCGTGCATG	0.587																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(694-696)atA>atT		myocardin		A	,,	0,4406		0,0,2203	50.0	45.0	47.0		696,408,696	-5.2	0.0	17		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MYOCD	NM_001146312.1,NM_001146313.1,NM_153604.2	,,	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	,,	232/987,136/685,232/939	12642624	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12642624A>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.696A>T	17.37:g.12642624A>T						MYOCD_ENST00000395988.1_Silent_p.I136I|MYOCD_ENST00000343344.4_Silent_p.I232I	p.I232I	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	7	896	+			232					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.696A>T	CCDS11163.1																																																																																				0.587	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		32	39	0	0	0	0.012213	0	32	39				
NEDD4	4734	broad.mit.edu	37	15	56207863	56207863	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:56207863G>A	ENST00000508342.1	-	1	1466	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	NEDD4_ENST00000506154.1_Silent_p.D389D|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.D389D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	389					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGTTTCACAGTCTAATGTAG	0.363																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1165-1167)gaC>gaT		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							54.0	52.0	53.0					15																	56207863		2193	4291	6484	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56207863G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1167C>T	15.37:g.56207863G>A						NEDD4_ENST00000506154.1_Silent_p.D389D|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.D389D	p.D389D			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	1466	-			389					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.1167C>T																																																																																					0.363	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		17	38	0	0	0	0.004007	0	17	38				
PLEKHA2	59339	broad.mit.edu	37	8	38810819	38810819	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:38810819G>T	ENST00000420274.1	+	9	941	c.707G>T	c.(706-708)cGa>cTa	p.R236L	PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	236	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)	p.R236L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CACCAGGACCGAGAACCACTG	0.463																																						ENST00000420274.1																			1	Substitution - Missense(1)	p.R236L(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(706-708)cGa>cTa		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2							217.0	208.0	211.0					8																	38810819		1949	4134	6083	SO:0001583	missense	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38810819G>T	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000420274.1:c.707G>T	8.37:g.38810819G>T	ENSP00000393860:p.Arg236Leu					PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Intron	p.R236L	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		9	941	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	236			PH 2.			Missense_Mutation	SNP	ENST00000420274.1	37	c.707G>T		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278585	0.59758	.	.	ENSG00000169499	ENST00000420274;ENST00000535929	T	0.12569	2.67	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.112988	0.56097	D	0.000033	T	0.16642	0.0400	L	0.45744	1.44	0.39510	D	0.968341	P;P	0.39576	0.679;0.679	B;B	0.42916	0.402;0.402	T	0.00857	-1.1538	10	0.62326	D	0.03	.	10.8469	0.46748	0.0864:0.0:0.9136:0.0	.	236;236	Q9HB19;A8K727	PKHA2_HUMAN;.	L	236;186	ENSP00000393860:R236L	ENSP00000393860:R236L	R	+	2	0	PLEKHA2	38929976	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	3.702000	0.54800	2.778000	0.95560	0.655000	0.94253	CGA		0.463	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021623		87	224	1	0	2.16659e-41	0.014410	2.49229e-41	87	224				
IGLL1	3543	broad.mit.edu	37	22	23915612	23915612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:23915612C>G	ENST00000330377.2	-	3	600	c.483G>C	c.(481-483)gaG>gaC	p.E161D	IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000454863.1_RNA|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	161	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCGTGGTCATCTCCACGCCCT	0.582																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(481-483)gaG>gaC		immunoglobulin lambda-like polypeptide 1							125.0	111.0	115.0					22																	23915612		2203	4300	6503	SO:0001583	missense	3543				immune response	extracellular region|membrane		g.chr22:23915612C>G	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.483G>C	22.37:g.23915612C>G	ENSP00000329312:p.Glu161Asp					IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	p.E161D	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			3	600	-			161			C region (By similarity to lambda light- chain).|Ig-like C1-type.		Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	c.483G>C	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	2.665	-0.278882	0.05642	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.03124	4.04;4.04	2.45	1.29	0.21616	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.849937	0.10216	N	0.701525	T	0.04182	0.0116	L	0.39467	1.215	0.26563	N	0.973695	B	0.02656	0.0	B	0.08055	0.003	T	0.36089	-0.9762	10	0.46703	T	0.11	.	8.8654	0.35282	0.0:0.765:0.235:0.0	.	161	P15814	IGLL1_HUMAN	D	161;162	ENSP00000329312:E161D;ENSP00000403391:E162D	ENSP00000329312:E161D	E	-	3	2	IGLL1	22245612	0.970000	0.33590	0.025000	0.17156	0.002000	0.02628	0.639000	0.24690	0.295000	0.22570	0.165000	0.16767	GAG		0.582	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		3	154	0	0	0	0.009096	0	3	154				
GRIP1	23426	broad.mit.edu	37	12	66990676	66990676	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:66990676C>T	ENST00000398016.3	-	2	155	c.87G>A	c.(85-87)caG>caA	p.Q29Q	GRIP1_ENST00000359742.4_Silent_p.Q29Q|GRIP1_ENST00000286445.7_Silent_p.Q29Q	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGGCTTTGTCTGGCTGGCGG	0.448																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(85-87)caG>caA		glutamate receptor interacting protein 1							106.0	110.0	108.0					12																	66990676		1901	4121	6022	SO:0001819	synonymous_variant	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66990676C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.87G>A	12.37:g.66990676C>T						GRIP1_ENST00000398016.3_Silent_p.Q29Q|GRIP1_ENST00000286445.7_Silent_p.Q29Q	p.Q29Q			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	2	327	-			29					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.87G>A	CCDS41807.1																																																																																				0.448	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			19	62	0	0	0	0.012319	0	19	62				
DNAH10	196385	broad.mit.edu	37	12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A	rs368019409		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:124333280G>A	ENST00000409039.3	+	33	5624	c.5599G>A	c.(5599-5601)Gtg>Atg	p.V1867M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1867	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5599-5601)Gtg>Atg		dynein, axonemal, heavy chain 10		G	MET/VAL	0,4140		0,0,2070	84.0	87.0	86.0		5599	3.9	0.1	12		86	2,8458		0,2,4228	no	missense	DNAH10	NM_207437.3	21	0,2,6298	AA,AG,GG		0.0236,0.0,0.0159	benign	1867/4472	124333280	2,12598	2070	4230	6300	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124333280G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5599G>A	12.37:g.124333280G>A	ENSP00000386770:p.Val1867Met						p.V1867M	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	33	5624	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1867			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5599G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058910	0.01950	0.0	2.36E-4	ENSG00000197653	ENST00000409039	T	0.10005	2.92	5.84	3.92	0.45320	ATPase, AAA+ type, core (1);	0.489978	0.19355	N	0.116292	T	0.02193	0.0068	N	0.00214	-1.84	0.39389	D	0.966384	B	0.32245	0.361	B	0.33890	0.172	T	0.42766	-0.9432	10	0.02654	T	1	.	10.4745	0.44657	0.2295:0.0:0.7705:0.0	.	1867	Q8IVF4	DYH10_HUMAN	M	1867	ENSP00000386770:V1867M	ENSP00000386770:V1867M	V	+	1	0	DNAH10	122899233	0.988000	0.35896	0.072000	0.20136	0.665000	0.39181	2.013000	0.40942	0.713000	0.32060	0.561000	0.74099	GTG		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	25	0	0	0	0.009096	0	4	25				
CCDC33	80125	broad.mit.edu	37	15	74559050	74559050	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:74559050G>A	ENST00000398814.3	+	4	782	c.351G>A	c.(349-351)aaG>aaA	p.K117K	CCDC33_ENST00000321288.5_Silent_p.K320K	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	320										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACAACAGAAAGAAACAGGAGT	0.473																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(958-960)aaG>aaA		coiled-coil domain containing 33							162.0	157.0	158.0					15																	74559050		1912	4130	6042	SO:0001819	synonymous_variant	80125						protein binding	g.chr15:74559050G>A	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.351G>A	15.37:g.74559050G>A						CCDC33_ENST00000398814.3_Silent_p.K117K	p.K320K			Q8N5R6	CCD33_HUMAN			6	960	+			320			C2.		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	c.960G>A	CCDS42058.1																																																																																				0.473	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		29	107	0	0	0	0.008361	0	29	107				
SETDB1	9869	broad.mit.edu	37	1	150900253	150900253	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:150900253G>A	ENST00000271640.5	+	2	253	c.63G>A	c.(61-63)gaG>gaA	p.E21E	SETDB1_ENST00000368963.1_Silent_p.E21E|SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Silent_p.E21E|SETDB1_ENST00000368962.2_Silent_p.E21E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	21					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCTGAAGAGATTGCAGAGC	0.463																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(61-63)gaG>gaA		SET domain, bifurcated 1							141.0	135.0	137.0					1																	150900253		2203	4300	6503	SO:0001819	synonymous_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150900253G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.63G>A	1.37:g.150900253G>A						SETDB1_ENST00000368962.2_Silent_p.E21E|SETDB1_ENST00000368969.4_Silent_p.E21E|SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368963.1_Silent_p.E21E	p.E21E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	253	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		21					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	37	c.63G>A	CCDS44217.1																																																																																				0.463	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			17	92	0	0	0	0.004990	0	17	92				
HLA-G	3135	broad.mit.edu	37	6	29796372	29796372	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:29796372C>T	ENST00000360323.6	+	3	420	c.396C>T	c.(394-396)cgC>cgT	p.R132R	HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Silent_p.R137R|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000428701.1_Silent_p.R132R			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	132	Alpha-2.				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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|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)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCGACGGACGCCTCCTCCGCG	0.672																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(394-396)cgC>cgT		major histocompatibility complex, class I, G							105.0	107.0	107.0					6																	29796372		1510	2709	4219	SO:0001819	synonymous_variant	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|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.chr6:29796372C>T		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.396C>T	6.37:g.29796372C>T						HLA-G_ENST00000376828.2_Silent_p.R137R|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Silent_p.R132R	p.R132R	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			4	574	+			132			Alpha-2.			Silent	SNP	ENST00000360323.6	37	c.396C>T	CCDS4668.1																																																																																				0.672	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		23	83	0	0	0	0.003954	0	23	83				
WAS	7454	broad.mit.edu	37	X	48542320	48542320	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:48542320C>G	ENST00000376701.4	+	1	153	c.78C>G	c.(76-78)ctC>ctG	p.L26L	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	26					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCTCCACCCTCCTCCAGGACC	0.617			"""Mis, N, F, S"""			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(76-78)ctC>ctG		Wiskott-Aldrich syndrome							113.0	88.0	96.0					X																	48542320		2203	4300	6503	SO:0001819	synonymous_variant	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48542320C>G	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.78C>G	X.37:g.48542320C>G						WAS_ENST00000483750.1_3'UTR	p.L26L	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			1	153	+		all_lung(315;1.27e-10)	26					Q9BU11|Q9UNJ9	Silent	SNP	ENST00000376701.4	37	c.78C>G	CCDS14303.1																																																																																				0.617	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		16	50	0	0	0	0.007413	0	16	50				
CD1D	912	broad.mit.edu	37	1	158152778	158152778	+	Missense_Mutation	SNP	C	C	T	rs139209490		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:158152778C>T	ENST00000368171.3	+	5	1217	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	240	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGTGGATGCGGGGTGAGCA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18495	0.001		0.0	False		,,,				2504	0.0					ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(718-720)Cgg>Tgg		CD1d molecule							118.0	109.0	112.0					1																	158152778		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152778C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.718C>T	1.37:g.158152778C>T	ENSP00000357153:p.Arg240Trp						p.R240W	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1217	+	all_hematologic(112;0.0378)		240			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.718C>T	CCDS1173.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.04	3.533843	0.64972	.	.	ENSG00000158473	ENST00000368171	T	0.03181	4.02	4.66	1.35	0.21983	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.45126	D	0.000384	T	0.13372	0.0324	M	0.93854	3.465	0.38373	D	0.944914	D	0.89917	1.0	D	0.85130	0.997	T	0.03112	-1.1071	10	0.87932	D	0	-38.3574	9.818	0.40865	0.5475:0.4525:0.0:0.0	.	240	P15813	CD1D_HUMAN	W	240	ENSP00000357153:R240W	ENSP00000357153:R240W	R	+	1	2	CD1D	156419402	0.412000	0.25392	0.999000	0.59377	0.966000	0.64601	0.094000	0.15107	0.614000	0.30107	0.655000	0.94253	CGG		0.632	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		5	142	0	0	0	0.000602	0	5	142				
PFKP	5214	broad.mit.edu	37	10	3178029	3178029	+	Splice_Site	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:3178029G>C	ENST00000381125.4	+	21	2300	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q	PFKP_ENST00000381072.1_Splice_Site_p.E160Q|PITRM1_ENST00000464395.1_5'Flank|PFKP_ENST00000381075.2_Splice_Site_p.E734Q	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	742	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AACGGATTTTGAGTAAGTTGG	0.453																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e23+1		phosphofructokinase, platelet							66.0	65.0	65.0					10																	3178029		2203	4300	6503	SO:0001630	splice_region_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3178029G>C	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2225+1G>C	10.37:g.3178029G>C						PFKP_ENST00000381125.4_Splice_Site_p.E742_splice|PFKP_ENST00000381072.1_Splice_Site_p.E160_splice	p.E734_splice	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	23	2424	+			742					B3KS15|Q5VSR7|Q5VSR8	Splice_Site	SNP	ENST00000381125.4	37	c.2201_splice	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.35|13.35	2.211047|2.211047	0.39102|0.39102	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072|ENST00000433193	D;D;D|.	0.81579|.	-1.51;-1.51;-1.51|.	4.92|4.92	4.02|4.02	0.46733|0.46733	Phosphofructokinase domain (1);|.	0.222293|.	0.37136|.	N|.	0.002223|.	T|T	0.63414|0.63414	0.2509|0.2509	M|M	0.69358|0.69358	2.11|2.11	0.35144|0.35144	D|D	0.769131|0.769131	B;B;B|.	0.15473|.	0.013;0.013;0.009|.	B;B;B|.	0.14023|.	0.01;0.01;0.004|.	T|T	0.70385|0.70385	-0.4886|-0.4886	10|5	0.51188|.	T|.	0.08|.	.|.	9.3559|9.3559	0.38166|0.38166	0.1624:0.0:0.8376:0.0|0.1624:0.0:0.8376:0.0	.|.	734;734;742|.	B3KS15;Q5VSR7;Q01813|.	.;.;K6PP_HUMAN|.	Q|F	742;731;734;160|94	ENSP00000370517:E742Q;ENSP00000370465:E734Q;ENSP00000370462:E160Q|.	ENSP00000370462:E160Q|.	E|L	+|+	1|3	0|2	PFKP|PFKP	3168029|3168029	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.764000|0.764000	0.43329|0.43329	6.503000|6.503000	0.73699|0.73699	1.067000|1.067000	0.40740|0.40740	0.462000|0.462000	0.41574|0.41574	GAG|TTG		0.453	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	Missense_Mutation	6	23	0	0	0	0.001168	0	6	23				
TCF21	6943	broad.mit.edu	37	6	134210544	134210544	+	Silent	SNP	C	C	T	rs570347337	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:134210544C>T	ENST00000367882.4	+	1	269	c.9C>T	c.(7-9)acC>acT	p.T3T	RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|TCF21_ENST00000237316.3_Silent_p.T3T|RP3-323P13.2_ENST00000607033.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	3					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T3T(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		ACATGTCCACCGGCTCCCTCA	0.522													C|||	9	0.00179712	0.0	0.0	5008	,	,		18903	0.0		0.0	False		,,,				2504	0.0092					ENST00000367882.4																			1	Substitution - coding silent(1)	p.T3T(1)	prostate(1)	cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(7-9)acC>acT		transcription factor 21							90.0	93.0	92.0					6																	134210544		2203	4300	6503	SO:0001819	synonymous_variant	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210544C>T	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.9C>T	6.37:g.134210544C>T						RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.T3T	p.T3T	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	269	+	Colorectal(23;0.221)|Breast(56;0.247)		3					E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	ENST00000367882.4	37	c.9C>T	CCDS5167.1																																																																																				0.522	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		14	91	0	0	0	0.006122	0	14	91				
KCTD5	54442	broad.mit.edu	37	16	2757382	2757382	+	3'UTR	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:2757382G>C	ENST00000301738.4	+	0	833				KCTD5_ENST00000564195.1_Missense_Mutation_p.E223Q	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5						protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAGATGTAATGAACTGCCATG	0.433																																					Ovarian(56;981 1456 4301 50892)	ENST00000564195.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(667-669)Gaa>Caa		potassium channel tetramerization domain containing 5							152.0	131.0	138.0					16																	2757382		692	1591	2283	SO:0001624	3_prime_UTR_variant	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2757382G>C	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"""potassium channel tetramerisation domain containing 5"""			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.*54G>C	16.37:g.2757382G>C						KCTD5_ENST00000301738.4_3'UTR	p.E223Q			Q9NXV2	KCTD5_HUMAN			5	676	+			0					D3DU96	Missense_Mutation	SNP	ENST00000301738.4	37	c.667G>C	CCDS10475.1																																																																																				0.433	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		9	25	0	0	0	0.006214	0	9	25				
ACVR1C	130399	broad.mit.edu	37	2	158390507	158390507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:158390507C>T	ENST00000243349.8	-	9	1765	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	ACVR1C_ENST00000335450.7_Missense_Mutation_p.G389R|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G419R|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G312R	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CGGGCCGCTCCGTTGGCATAC	0.388																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1405-1407)Gga>Aga		activin A receptor, type IC							91.0	100.0	97.0					2																	158390507		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158390507C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1405G>A	2.37:g.158390507C>T	ENSP00000243349:p.Gly469Arg					ACVR1C_ENST00000335450.7_Missense_Mutation_p.G389R|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G419R|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G312R	p.G469R	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			9	1765	-			469			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1405G>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457483	0.84317	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000061	D	0.94404	0.8200	N	0.25890	0.77	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74348	0.975;0.954;0.983	D	0.95247	0.8356	10	0.72032	D	0.01	.	18.9895	0.92786	0.0:1.0:0.0:0.0	.	312;389;469	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	R	469;419;312;389	ENSP00000243349:G469R;ENSP00000387168:G419R;ENSP00000335139:G312R;ENSP00000335178:G389R	ENSP00000243349:G469R	G	-	1	0	ACVR1C	158098753	0.637000	0.27216	0.997000	0.53966	0.882000	0.50991	1.922000	0.40045	2.574000	0.86865	0.591000	0.81541	GGA		0.388	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		17	109	0	0	0	0.006122	0	17	109				
MCM3AP	8888	broad.mit.edu	37	21	47697544	47697544	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr21:47697544G>A	ENST00000397708.1	-	6	2009	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	MCM3AP_ENST00000291688.1_Silent_p.L585L			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	585					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CACATGGCCCGAGGCCCTCGG	0.552																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(1753-1755)ctC>ctT		minichromosome maintenance complex component 3 associated protein							133.0	116.0	122.0					21																	47697544		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47697544G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1755C>T	21.37:g.47697544G>A						MCM3AP_ENST00000291688.1_Silent_p.L585L	p.L585L			O60318	MCM3A_HUMAN			6	2009	-	Breast(49;0.112)		585					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.1755C>T	CCDS13734.1																																																																																				0.552	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		12	111	0	0	0	0.002450	0	12	111				
LIN9	286826	broad.mit.edu	37	1	226421074	226421074	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:226421074T>C	ENST00000328205.5	-	13	1989	c.1444A>G	c.(1444-1446)Agg>Ggg	p.R482G	LIN9_ENST00000481685.1_Missense_Mutation_p.R447G|LIN9_ENST00000366801.1_Missense_Mutation_p.R431G	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	466					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCTGTAAGCCTGGAAATTAAG	0.368																																					Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1444-1446)Agg>Ggg		lin-9 homolog (C. elegans)							117.0	120.0	119.0					1																	226421074		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226421074T>C	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1444A>G	1.37:g.226421074T>C	ENSP00000329102:p.Arg482Gly					LIN9_ENST00000366801.1_Missense_Mutation_p.R431G|LIN9_ENST00000481685.1_Missense_Mutation_p.R447G	p.R482G	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	13	1989	-	Breast(184;0.158)		466					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.1444A>G	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469404	0.26423	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	N	0.17474	0.49	0.80722	D	1	B;B;D	0.57899	0.001;0.002;0.981	B;B;D	0.69824	0.001;0.002;0.966	T	0.54105	-0.8343	9	0.11182	T	0.66	.	15.8367	0.78805	0.0:0.0:0.0:1.0	.	447;466;616	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	G	442;482;537;431;447	.	ENSP00000329102:R482G	R	-	1	2	LIN9	224487697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.810000	0.69179	2.142000	0.66516	0.533000	0.62120	AGG		0.368	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		3	146	0	0	0	0.009096	0	3	146				
SLC2A14	144195	broad.mit.edu	37	12	7980270	7980270	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:7980270G>A	ENST00000543909.1	-	12	1513	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	SLC2A14_ENST00000535295.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R229W|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R229W|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R267W|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R252W|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	252					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCCCACAACCGCTGGAGGACT	0.507																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(754-756)Cgg>Tgg		solute carrier family 2 (facilitated glucose transporter), member 14							18.0	21.0	20.0					12																	7980270		2189	4280	6469	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7980270G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.754C>T	12.37:g.7980270G>A	ENSP00000440480:p.Arg252Trp					SLC2A14_ENST00000542546.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R229W|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R267W|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R252W|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R229W	p.R252W			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	12	1513	-			252					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.754C>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	3.603	-0.081240	0.07141	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	3.58	-2.18	0.07037	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.530384	0.19316	N	0.117273	T	0.61751	0.2372	L	0.46885	1.475	0.09310	N	0.999991	B;B;B;B	0.33266	0.205;0.072;0.012;0.404	B;B;B;B	0.33196	0.11;0.077;0.013;0.159	T	0.50311	-0.8843	10	0.33141	T	0.24	.	2.7326	0.05231	0.1043:0.1253:0.3822:0.3882	.	267;143;229;252	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	W	229;252;229;252;143;143;267	ENSP00000340450:R229W;ENSP00000440480:R252W;ENSP00000407287:R229W;ENSP00000379834:R252W;ENSP00000440492:R143W;ENSP00000443903:R143W;ENSP00000445929:R267W	ENSP00000340450:R229W	R	-	1	2	SLC2A14	7871537	0.039000	0.19947	0.082000	0.20525	0.784000	0.44337	0.340000	0.19892	-0.252000	0.09528	-0.916000	0.02749	CGG		0.507	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		7	46	0	0	0	0.013537	0	7	46				
TAS2R20	259295	broad.mit.edu	37	12	11150362	11150362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:11150362C>T	ENST00000538986.1	-	1	112	c.113G>A	c.(112-114)aGa>aAa	p.R38K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	38					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GATCTTTTGTCTCTTGACCCA	0.378																																						ENST00000538986.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(112-114)aGa>aAa		taste receptor, type 2, member 20							41.0	46.0	44.0					12																	11150362		2203	4300	6503	SO:0001583	missense	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11150362C>T	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.113G>A	12.37:g.11150362C>T	ENSP00000441624:p.Arg38Lys					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.R38K	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN			1	112	-			38					P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	c.113G>A	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	C	1.313	-0.601536	0.03744	.	.	ENSG00000255837	ENST00000538986	T	0.36520	1.25	2.77	0.615	0.17608	.	0.161017	0.38436	N	0.001685	T	0.22322	0.0538	L	0.35414	1.06	0.09310	N	0.999992	B	0.29531	0.247	B	0.33960	0.173	T	0.14254	-1.0479	10	0.19590	T	0.45	.	5.4381	0.16492	0.0:0.6554:0.2082:0.1364	.	38	P59543	T2R20_HUMAN	K	38	ENSP00000441624:R38K	ENSP00000441624:R38K	R	-	2	0	TAS2R20	11041629	0.001000	0.12720	0.058000	0.19502	0.002000	0.02628	-0.322000	0.08007	0.505000	0.28104	-0.218000	0.12543	AGA		0.378	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		23	46	0	0	0	0.016522	0	23	46				
LMTK2	22853	broad.mit.edu	37	7	97832936	97832936	+	Silent	SNP	G	G	A	rs146973469	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:97832936G>A	ENST00000297293.5	+	12	4451	c.4158G>A	c.(4156-4158)ccG>ccA	p.P1386P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1386					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGTGCGGCCCGGACCTGAGCG	0.597																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(4156-4158)ccG>ccA		lemur tyrosine kinase 2		G		0,4406		0,0,2203	28.0	26.0	26.0		4158	-10.3	0.0	7	dbSNP_134	26	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	LMTK2	NM_014916.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1386/1504	97832936	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97832936G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4158G>A	7.37:g.97832936G>A							p.P1386P	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			12	4451	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1386					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.4158G>A	CCDS5654.1																																																																																				0.597	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		11	26	0	0	0	0.010729	0	11	26				
C17orf74	201243	broad.mit.edu	37	17	7330746	7330746	+	Missense_Mutation	SNP	C	C	T	rs200505211		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:7330746C>T	ENST00000333870.3	+	3	1510	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	479						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGGTCCAGCTCACTGCCACCG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16405	0.0		0.0	False		,,,				2504	0.0					ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1435-1437)tCa>tTa		chromosome 17 open reading frame 74							24.0	28.0	27.0					17																	7330746		2104	4217	6321	SO:0001583	missense	201243					integral to membrane		g.chr17:7330746C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1436C>T	17.37:g.7330746C>T	ENSP00000328061:p.Ser479Leu					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	p.S479L	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	1510	+		Prostate(122;0.157)	479						Missense_Mutation	SNP	ENST00000333870.3	37	c.1436C>T	CCDS42255.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.70	2.912273	0.52439	.	.	ENSG00000184560	ENST00000333870	T	0.36157	1.27	4.33	4.33	0.51752	.	0.000000	0.28700	U	0.014436	T	0.46946	0.1419	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.47195	-0.9136	10	0.87932	D	0	-9.6112	12.5035	0.55968	0.0:1.0:0.0:0.0	.	479	Q0P670	CQ074_HUMAN	L	479	ENSP00000328061:S479L	ENSP00000328061:S479L	S	+	2	0	C17orf74	7271470	0.546000	0.26457	0.446000	0.26920	0.370000	0.29829	3.526000	0.53509	2.403000	0.81681	0.313000	0.20887	TCA		0.632	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		13	32	0	0	0	0.013537	0	13	32				
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672													t|||	242	0.0483227	0.1248	0.0202	5008	,	,		19066	0.005		0.0219	False		,,,				2504	0.0368					ENST00000391413.2																			1	Substitution - Missense(1)	p.R51K(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)aGg>aAg		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274416		682	1579	2261	SO:0001583	missense	653240					keratin filament		g.chr17:39274416C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.152G>A	17.37:g.39274416C>T	ENSP00000375232:p.Arg51Lys						p.R51K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.152G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.205	0.036712	0.08148	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.47	-1.13	0.09775	.	2.855670	0.02563	U	0.096976	T	0.02610	0.0079	M	0.72118	2.19	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.52283	-0.8596	10	0.05959	T	0.93	.	3.7627	0.08610	0.1684:0.4051:0.0:0.4265	rs408579	51	Q9BYQ6	KR411_HUMAN	K	51	ENSP00000375232:R51K	ENSP00000375232:R51K	R	-	2	0	KRTAP4-11	36527942	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.738000	0.04871	-0.091000	0.12440	-0.208000	0.12717	AGG		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	63	0	0	0	0.010729	0	7	63				
SLC12A4	6560	broad.mit.edu	37	16	67979293	67979293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:67979293C>G	ENST00000316341.3	-	22	3151	c.3011G>C	c.(3010-3012)cGg>cCg	p.R1004P	SLC12A4_ENST00000576616.1_Missense_Mutation_p.R1004P|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R956P|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R1006P|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R973P|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R998P|SLC12A4_ENST00000338335.3_3'UTR	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1004					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCAGCTCCCGGAAATTGTC	0.572																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(3016-3018)cGg>cCg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						91.0	87.0	88.0					16																	67979293		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979293C>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.3011G>C	16.37:g.67979293C>G	ENSP00000318557:p.Arg1004Pro					SLC12A4_ENST00000576616.1_Missense_Mutation_p.R1004P|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R973P|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R998P|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R1004P|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R956P	p.R1006P	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	21	3056	-		Ovarian(137;0.192)	1004					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.3017G>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695853	0.88830	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	L	0.52573	1.65	0.80722	D	1	B;B;D;B;B;B	0.61080	0.011;0.003;0.989;0.002;0.002;0.003	B;B;P;B;B;B	0.60286	0.013;0.006;0.872;0.013;0.013;0.01	T	0.46498	-0.9187	10	0.27082	T	0.32	.	19.2529	0.93932	0.0:1.0:0.0:0.0	.	1006;998;973;998;1004;1004	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	P	1006;973;998;1004	ENSP00000395983:R1006P;ENSP00000438334:R973P;ENSP00000445962:R998P;ENSP00000318557:R1004P	ENSP00000318557:R1004P	R	-	2	0	SLC12A4	66536794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.817000	0.55668	2.557000	0.86248	0.557000	0.71058	CGG		0.572	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		28	58	0	0	0	0.007291	0	28	58				
DUS3L	56931	broad.mit.edu	37	19	5785684	5785684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:5785684A>T	ENST00000309061.7	-	11	1777	c.1681T>A	c.(1681-1683)Tgg>Agg	p.W561R	PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.W319R	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	561							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCCGAGCCCCAGTGCTCCAGG	0.677																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1681-1683)Tgg>Agg		dihydrouridine synthase 3-like (S. cerevisiae)							31.0	32.0	32.0					19																	5785684		2202	4296	6498	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5785684A>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1681T>A	19.37:g.5785684A>T	ENSP00000311977:p.Trp561Arg					DUS3L_ENST00000320699.8_Missense_Mutation_p.W319R	p.W561R	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			11	1777	-			561					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1681T>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400096	0.83120	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.28454	1.61;1.61	4.45	4.45	0.53987	.	0.062125	0.64402	D	0.000001	T	0.55784	0.1942	M	0.79693	2.465	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.61744	-0.7000	10	0.87932	D	0	-21.6883	11.6902	0.51510	1.0:0.0:0.0:0.0	.	319;561	Q96G46-3;Q96G46	.;DUS3L_HUMAN	R	561;319	ENSP00000311977:W561R;ENSP00000315558:W319R	ENSP00000311977:W561R	W	-	1	0	DUS3L	5736684	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.840000	0.92125	1.667000	0.50832	0.454000	0.30748	TGG		0.677	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		6	18	0	0	0	0.001984	0	6	18				
ZNF765	91661	broad.mit.edu	37	19	53912281	53912281	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:53912281G>A	ENST00000396408.3	+	4	1590	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ATACTGGACAGAAACCTTACA	0.378																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(1471-1473)caG>caA		zinc finger protein 765							65.0	69.0	68.0					19																	53912281		2201	4300	6501	SO:0001819	synonymous_variant	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912281G>A	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1473G>A	19.37:g.53912281G>A						ZNF765_ENST00000594030.1_Intron	p.Q491Q	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	1590	+			491					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Silent	SNP	ENST00000396408.3	37	c.1473G>A	CCDS46171.1																																																																																				0.378	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		13	98	0	0	0	0.016723	0	13	98				
CCDC93	54520	broad.mit.edu	37	2	118758500	118758500	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:118758500G>C	ENST00000376300.2	-	4	397	c.260C>G	c.(259-261)tCa>tGa	p.S87*	AC009303.1_ENST00000590516.1_RNA|RP11-98C1.2_ENST00000591103.1_RNA|RP11-98C1.1_ENST00000588733.1_RNA|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.S87*|AC009303.1_ENST00000588042.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	87										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AATTTTTTCTGACAGAGCTCT	0.463																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(259-261)tCa>tGa		coiled-coil domain containing 93							77.0	79.0	78.0					2																	118758500		2203	4300	6503	SO:0001587	stop_gained	54520							g.chr2:118758500G>C	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.260C>G	2.37:g.118758500G>C	ENSP00000365477:p.Ser87*					AC009303.1_ENST00000588042.1_RNA|AC009303.1_ENST00000590516.1_RNA|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.S87*	p.S87*	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			4	397	-			87					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Nonsense_Mutation	SNP	ENST00000376300.2	37	c.260C>G	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	38	7.194865	0.98129	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	.	.	.	5.01	5.01	0.66863	.	0.056971	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.5417	17.6037	0.88032	0.0:0.0:1.0:0.0	.	.	.	.	X	87	.	ENSP00000324135:S87X	S	-	2	0	CCDC93	118474970	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	8.991000	0.93514	2.767000	0.95098	0.591000	0.81541	TCA		0.463	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		14	29	0	0	0	0.004990	0	14	29				
TTN	7273	broad.mit.edu	37	2	179434801	179434801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:179434801C>G	ENST00000591111.1	-	276	71359	c.71135G>C	c.(71134-71136)aGa>aCa	p.R23712T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16288T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16480T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16413T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25353T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22785T			Q8WZ42	TITIN_HUMAN	titin	23712	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTATGGCATCTTGTCCATCT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(76057-76059)aGa>aCa		titin							129.0	120.0	123.0					2																	179434801		1952	4147	6099	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434801C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71135G>C	2.37:g.179434801C>G	ENSP00000465570:p.Arg23712Thr					TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23712T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22785T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16480T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16413T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16288T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.R25353T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	76282	-			23712			Fibronectin type-III 84.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.76058G>C		.	.	.	.	.	.	.	.	.	.	C	14.74	2.624437	0.46840	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67776	0.2929	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.68424	-0.5412	9	0.87932	D	0	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	16288;16413;16480;23712	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	22785;16288;16480;16413;16286	ENSP00000343764:R22785T;ENSP00000434586:R16288T;ENSP00000340554:R16480T;ENSP00000352154:R16413T	ENSP00000340554:R16480T	R	-	2	0	TTN	179143047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.093000	0.71422	2.770000	0.95276	0.650000	0.86243	AGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	141	0	0	0	0.004672	0	3	141				
OR9A4	130075	broad.mit.edu	37	7	141619579	141619579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:141619579C>T	ENST00000548136.1	+	1	963	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGAGGCCCTTCGGGATGGGGT	0.423																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(904-906)Cgg>Tgg		olfactory receptor, family 9, subfamily A, member 4							94.0	96.0	96.0					7																	141619579		2071	4246	6317	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619579C>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.904C>T	7.37:g.141619579C>T	ENSP00000448789:p.Arg302Trp					MGAM_ENST00000497554.1_Intron	p.R302W	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	963	+	Melanoma(164;0.0171)		302					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.904C>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	C	3.977	-0.007230	0.07773	.	.	ENSG00000258083	ENST00000548136	T	0.40225	1.04	3.7	-0.787	0.10943	.	.	.	.	.	T	0.28167	0.0695	L	0.39898	1.24	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.27706	-1.0066	9	0.52906	T	0.07	0.029	2.8696	0.05613	0.3775:0.3949:0.0:0.2276	.	302	Q8NGU2	OR9A4_HUMAN	W	302	ENSP00000448789:R302W	ENSP00000386148:R302W	R	+	1	2	OR9A4	141266048	0.000000	0.05858	0.070000	0.20053	0.159000	0.22180	-2.665000	0.00848	0.023000	0.15187	-0.203000	0.12734	CGG		0.423	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		21	70	0	0	0	0.014323	0	21	70				
IRF2BP2	359948	broad.mit.edu	37	1	234745081	234745081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:234745081C>A	ENST00000366609.3	-	1	190	c.160G>T	c.(160-162)Gag>Tag	p.E54*	IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.E54*|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	54					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGCGCCGTCTCGATGACGAAC	0.746																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(160-162)Gag>Tag		interferon regulatory factor 2 binding protein 2							7.0	7.0	7.0					1																	234745081		2112	4182	6294	SO:0001587	stop_gained	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234745081C>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.160G>T	1.37:g.234745081C>A	ENSP00000355568:p.Glu54*					RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.E54*	p.E54*	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		1	190	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	54					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Nonsense_Mutation	SNP	ENST00000366609.3	37	c.160G>T	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231862	0.39399	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	.	.	.	2.5	1.55	0.23275	.	0.473696	0.20520	U	0.090706	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.886	0.41262	0.0:0.7876:0.2124:0.0	.	.	.	.	X	54	.	ENSP00000355568:E54X	E	-	1	0	IRF2BP2	232811704	1.000000	0.71417	0.843000	0.33291	0.008000	0.06430	6.123000	0.71614	0.235000	0.21160	-1.445000	0.01065	GAG		0.746	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		4	5	1	0	0.00116845	0.001168	0.00123071	4	5				
CYP4F24P	388514	broad.mit.edu	37	19	15885127	15885127	+	IGR	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:15885127C>T								LLNLR-249E10.1 (3489 upstream) : OR10H5 (19633 downstream)																							ATGGAGAGATCATCCTTGGGC	0.577																																						ENST00000587443.2																			0																																																	SO:0001628	intergenic_variant	388514							g.chr19:15885127C>T																													19.37:g.15885127C>T								NR_033864.1						0	295	-									RNA	SNP		37			.	.	.	.	.	.	.	.	.	.	.	2.716	-0.267708	0.05754	.	.	ENSG00000225607	ENST00000412610	.	.	.	1.76	-3.51	0.04696	.	.	.	.	.	T	0.20780	0.0500	.	.	.	.	.	.	B	0.06786	0.001	B	0.12837	0.008	T	0.23048	-1.0199	6	0.20519	T	0.43	.	4.3921	0.11346	0.1837:0.5375:0.0:0.2787	.	10	B4DNA9	.	N	10	.	ENSP00000389636:D10N	D	-	1	0	AC011537.1	15746127	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.570000	0.02140	-1.291000	0.02368	-0.369000	0.07265	GAT	0	0.577									19	60	0	0	0	0.008871	0	19	60				
CERS6	253782	broad.mit.edu	37	2	169417810	169417810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:169417810C>G	ENST00000305747.6	+	3	972	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V	CERS6_ENST00000392687.4_Missense_Mutation_p.L129V	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	129					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GCCAAGCACGCTGACGAGGTT	0.448																																						ENST00000305747.6																			0											c.(385-387)Ctg>Gtg		ceramide synthase 6							138.0	130.0	133.0					2																	169417810		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169417810C>G	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.385C>G	2.37:g.169417810C>G	ENSP00000306579:p.Leu129Val					CERS6_ENST00000392687.4_Missense_Mutation_p.L129V	p.L129V	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			3	972	+			129					Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.385C>G	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891000	0.72524	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.12774	2.84;2.65	5.31	5.31	0.75309	Homeobox (1);	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	M	0.70595	2.14	0.80722	D	1	P;P	0.47545	0.83;0.897	B;P	0.46389	0.362;0.515	T	0.01242	-1.1408	10	0.33141	T	0.24	-20.3925	19.3447	0.94358	0.0:1.0:0.0:0.0	.	129;129	Q32M63;Q6ZMG9	.;CERS6_HUMAN	V	129	ENSP00000306579:L129V;ENSP00000376453:L129V	ENSP00000306579:L129V	L	+	1	2	CERS6	169126056	1.000000	0.71417	0.671000	0.29857	0.993000	0.82548	4.784000	0.62411	2.641000	0.89580	0.650000	0.86243	CTG		0.448	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		15	100	0	0	0	0.004007	0	15	100				
HSD3B1	3283	broad.mit.edu	37	1	120057080	120057080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:120057080C>T	ENST00000369413.3	+	4	1079	c.934C>T	c.(934-936)Cga>Tga	p.R312*	HSD3B1_ENST00000235547.6_Nonsense_Mutation_p.R314*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.R312*			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	312					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TTACACCTATCGACCGCCCTT	0.473																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(940-942)Cga>Tga		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						109.0	108.0	108.0					1																	120057080		2203	4300	6503	SO:0001587	stop_gained	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120057080C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.934C>T	1.37:g.120057080C>T	ENSP00000358421:p.Arg312*					HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.R312*|HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.R312*	p.R314*	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	1079	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	312					A8K691|Q14545|Q8IV65	Nonsense_Mutation	SNP	ENST00000369413.3	37	c.940C>T	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900367	0.33535	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	.	.	.	3.26	-0.455	0.12193	.	1.460970	0.04411	N	0.366031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-16.5012	5.1421	0.14965	0.3712:0.3138:0.315:0.0	.	.	.	.	X	312;314;312	.	ENSP00000235547:R314X	R	+	1	2	HSD3B1	119858603	0.000000	0.05858	0.002000	0.10522	0.065000	0.16274	-0.605000	0.05661	0.133000	0.18654	0.313000	0.20887	CGA		0.473	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		40	118	0	0	0	0.006230	0	40	118				
FARP1	10160	broad.mit.edu	37	13	99092944	99092944	+	Missense_Mutation	SNP	G	G	A	rs145597966	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr13:99092944G>A	ENST00000319562.6	+	24	2915	c.2650G>A	c.(2650-2652)Gcg>Acg	p.A884T	FARP1_ENST00000376586.2_Missense_Mutation_p.A915T|FARP1_ENST00000595437.1_Missense_Mutation_p.A915T	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	884					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAAGCCACCGCGGCTGACCA	0.627													G|||	7	0.00139776	0.0053	0.0	5008	,	,		19065	0.0		0.0	False		,,,				2504	0.0					ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(2743-2745)Gcg>Acg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)		G	THR/ALA	7,4399	12.9+/-30.5	0,7,2196	46.0	46.0	46.0		2650	-1.1	0.0	13	dbSNP_134	46	0,8600		0,0,4300	yes	missense	FARP1	NM_005766.2	58	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign	884/1046	99092944	7,12999	2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99092944G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2650G>A	13.37:g.99092944G>A	ENSP00000322926:p.Ala884Thr					FARP1_ENST00000595437.1_Missense_Mutation_p.A915T|FARP1_ENST00000319562.6_Missense_Mutation_p.A884T	p.A915T			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		25	3079	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		884					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2743G>A	CCDS9487.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	6.594	0.478021	0.12521	0.001589	0.0	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.11821	2.74;2.74	4.68	-1.09	0.09904	.	1.399260	0.04204	N	0.330604	T	0.06462	0.0166	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32534	-0.9903	10	0.14656	T	0.56	.	2.2114	0.03949	0.4204:0.1199:0.3367:0.123	.	884;915	Q9Y4F1;C9JME2	FARP1_HUMAN;.	T	915;884	ENSP00000365771:A915T;ENSP00000322926:A884T	ENSP00000322926:A884T	A	+	1	0	FARP1	97890945	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.117000	0.10708	-0.396000	0.07703	-1.707000	0.00718	GCG		0.627	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		7	64	0	0	0	0.001984	0	7	64				
BAIAP2L1	55971	broad.mit.edu	37	7	97935815	97935815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:97935815G>A	ENST00000005260.8	-	11	1392	c.1177C>T	c.(1177-1179)Ccg>Tcg	p.P393S	BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000609873.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	393	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TACGACGACGGGAACCAACCC	0.572																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(1177-1179)Ccg>Tcg		BAI1-associated protein 2-like 1							158.0	127.0	137.0					7																	97935815		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97935815G>A	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1177C>T	7.37:g.97935815G>A	ENSP00000005260:p.Pro393Ser						p.P393S	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		11	1392	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		393			SH3.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.1177C>T	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336863	0.81801	.	.	ENSG00000006453	ENST00000005260	D	0.99454	-5.92	5.28	5.28	0.74379	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97308	0.9935	10	0.72032	D	0.01	-19.4529	16.7557	0.85498	0.0:0.0:1.0:0.0	.	393	Q9UHR4	BI2L1_HUMAN	S	393	ENSP00000005260:P393S	ENSP00000005260:P393S	P	-	1	0	AC093799.1	97773751	1.000000	0.71417	0.999000	0.59377	0.649000	0.38597	7.457000	0.80775	2.650000	0.89964	0.591000	0.81541	CCG		0.572	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		25	71	0	0	0	0.004656	0	25	71				
BIRC6	57448	broad.mit.edu	37	2	32724766	32724766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:32724766C>G	ENST00000421745.2	+	46	8755	c.8621C>G	c.(8620-8622)tCa>tGa	p.S2874*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2874					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCACTTGCTCAGACAAAGTA	0.433																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(8620-8622)tCa>tGa		baculoviral IAP repeat containing 6							205.0	204.0	205.0					2																	32724766		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32724766C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8621C>G	2.37:g.32724766C>G	ENSP00000393596:p.Ser2874*						p.S2874*	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			46	8755	+	Acute lymphoblastic leukemia(172;0.155)		2874					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.8621C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	51	17.606523	0.99890	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.6002	0.95559	0.0:1.0:0.0:0.0	.	.	.	.	X	2874	.	ENSP00000393596:S2874X	S	+	2	0	BIRC6	32578270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.691000	0.91804	0.655000	0.94253	TCA		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		44	123	0	0	0	0.014410	0	44	123				
ACBD6	84320	broad.mit.edu	37	1	180471273	180471273	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:180471273G>A	ENST00000367595.3	-	1	816	c.129C>T	c.(127-129)gcC>gcT	p.A43A		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	43	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.					cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CAAACAGCTCGGCCAGGCAAC	0.612																																						ENST00000367595.3																		ACBD6/RRP15(2)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						c.(127-129)gcC>gcT		acyl-CoA binding domain containing 6							39.0	40.0	39.0					1																	180471273		2203	4300	6503	SO:0001819	synonymous_variant	84320					cytoplasm|nucleus	fatty-acyl-CoA binding	g.chr1:180471273G>A	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.129C>T	1.37:g.180471273G>A							p.A43A	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN			1	816	-			43			ACB.			Silent	SNP	ENST00000367595.3	37	c.129C>T	CCDS1339.1																																																																																				0.612	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360		9	33	0	0	0	0.004482	0	9	33				
CFP	5199	broad.mit.edu	37	X	47486681	47486681	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:47486681A>G	ENST00000396992.3	-	5	745	c.625T>C	c.(625-627)Tgc>Cgc	p.C209R	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Missense_Mutation_p.C209R|CFP_ENST00000377005.2_Missense_Mutation_p.C209R	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	209	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCACCGTGGCAGGAGGCTGAG	0.667																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(625-627)Tgc>Cgc		complement factor properdin							31.0	37.0	35.0					X																	47486681		2202	4299	6501	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486681A>G	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.625T>C	X.37:g.47486681A>G	ENSP00000380189:p.Cys209Arg					CFP_ENST00000396992.3_Missense_Mutation_p.C209R|CFP_ENST00000377005.2_Missense_Mutation_p.C209R	p.C209R	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			6	866	-			209			TSP type-1 3.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.625T>C	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770783	0.49680	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.09	5.09	0.68999	.	0.241866	0.44285	D	0.000461	D	0.98874	0.9619	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.992;0.999	D	0.98688	1.0695	10	0.66056	D	0.02	.	10.4497	0.44516	1.0:0.0:0.0:0.0	.	145;209	B3KVK6;P27918	.;PROP_HUMAN	R	209;209;209;74	ENSP00000380189:C209R;ENSP00000247153:C209R;ENSP00000366204:C209R;ENSP00000418258:C74R	ENSP00000247153:C209R	C	-	1	0	CFP	47371625	1.000000	0.71417	0.910000	0.35882	0.402000	0.30811	4.837000	0.62796	1.806000	0.52798	0.483000	0.47432	TGC		0.667	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		3	14	0	0	0	0.009096	0	3	14				
ECE2	9718	broad.mit.edu	37	3	183994461	183994461	+	Intron	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:183994461C>T	ENST00000402825.3	+	3	480				EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.R78C|ECE2_ENST00000404464.3_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCCACCTCCGCTCCATCTC	0.617																																						ENST00000357474.5																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(232-234)Cgc>Tgc		endothelin converting enzyme 2							19.0	20.0	20.0					3																	183994461		2105	4222	6327	SO:0001627	intron_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183994461C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-219C>T	3.37:g.183994461C>T						ECE2_ENST00000359140.4_Intron|ECE2_ENST00000404464.3_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	p.R78C			O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	351	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		152			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.232C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262093	0.39995	.	.	ENSG00000145194	ENST00000357474;ENST00000430587	D;T	0.82619	-1.63;-1.38	2.29	-2.1	0.07210	.	2.368260	0.02064	U	0.051021	T	0.64438	0.2598	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51379	-0.8713	10	0.54805	T	0.06	.	0.879	0.01230	0.1816:0.396:0.1785:0.2439	.	78;78	B7Z1P1;O60344-5	.;.	C	78;24	ENSP00000350066:R78C;ENSP00000398444:R24C	ENSP00000350066:R78C	R	+	1	0	ECE2	185477155	0.000000	0.05858	0.003000	0.11579	0.895000	0.52256	-1.864000	0.01650	-0.633000	0.05545	0.462000	0.41574	CGC		0.617	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		3	5	0	0	0	0.009096	0	3	5				
COG5	10466	broad.mit.edu	37	7	107204296	107204296	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:107204296G>C	ENST00000347053.3	-	1	189	c.139C>G	c.(139-141)Cga>Gga	p.R47G	DUS4L_ENST00000265720.3_5'Flank|COG5_ENST00000297135.3_Missense_Mutation_p.R47G|DUS4L_ENST00000498786.1_Intron|COG5_ENST00000393603.2_Missense_Mutation_p.R47G|DUS4L_ENST00000402620.1_5'Flank	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	47					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCAGAGCCTCGAGCTCCGAGG	0.667																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(139-141)Cga>Gga		component of oligomeric golgi complex 5							33.0	34.0	33.0					7																	107204296		2193	4285	6478	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107204296G>C	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.139C>G	7.37:g.107204296G>C	ENSP00000334703:p.Arg47Gly					COG5_ENST00000297135.3_Missense_Mutation_p.R47G|DUS4L_ENST00000498786.1_Intron|COG5_ENST00000347053.3_Missense_Mutation_p.R47G	p.R47G	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			1	410	-			47					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.139C>G	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	2.922	-0.223080	0.06061	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.17370	2.29;2.28;2.28	5.41	1.21	0.21127	.	1.732920	0.02949	N	0.141519	T	0.10078	0.0247	N	0.08118	0	0.09310	N	0.999995	B;B	0.06786	0.001;0.001	B;B	0.12156	0.003;0.007	T	0.29640	-1.0005	10	0.21014	T	0.42	12.3555	8.2536	0.31741	0.0889:0.459:0.4521:0.0	.	47;47	Q9UP83;Q9UP83-2	COG5_HUMAN;.	G	47	ENSP00000334703:R47G;ENSP00000297135:R47G;ENSP00000377228:R47G	ENSP00000297135:R47G	R	-	1	2	COG5	106991532	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.031000	0.13710	0.354000	0.24105	0.591000	0.81541	CGA		0.667	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			28	50	0	0	0	0.010818	0	28	50				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'Flank|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		3	48	0	0	0	0.004672	0	3	48				
MYH3	4621	broad.mit.edu	37	17	10547749	10547749	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:10547749G>A	ENST00000583535.1	-	14	1416	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	MYH3_ENST00000226209.7_Silent_p.R443R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	443	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTGGTTAATGCGAGTGACCA	0.398																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1327-1329)cgC>cgT		myosin, heavy chain 3, skeletal muscle, embryonic							145.0	141.0	142.0					17																	10547749		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10547749G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1329C>T	17.37:g.10547749G>A						MYH3_ENST00000226209.7_Silent_p.R443R	p.R443R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			14	1416	-			443			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.1329C>T	CCDS11157.1																																																																																				0.398	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		22	68	0	0	0	0.012319	0	22	68				
COCH	1690	broad.mit.edu	37	14	31348691	31348691	+	Splice_Site	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:31348691G>C	ENST00000396618.3	+	6	492	c.436G>C	c.(436-438)Ggt>Cgt	p.G146R	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Splice_Site_p.G146R|COCH_ENST00000382493.4_5'Flank|COCH_ENST00000216361.4_Splice_Site_p.G146R|COCH_ENST00000460581.2_Splice_Site_p.G34R	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	146					defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCCACCAACAGGTATGAACTA	0.383																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.e4+1		cochlin							96.0	89.0	91.0					14																	31348691		2203	4300	6503	SO:0001630	splice_region_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31348691G>C		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.436+1G>C	14.37:g.31348691G>C						COCH_ENST00000216361.4_Splice_Site_p.G146_splice|COCH_ENST00000396618.3_Splice_Site_p.G146_splice|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Splice_Site_p.G146_splice	p.G34_splice			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	4	646	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		146			LCCL.		A8K9K9|D3DS84|Q96IU6	Splice_Site	SNP	ENST00000396618.3	37	c.100_splice	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477832	0.84640	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908;ENST00000460581;ENST00000542225	T;T;T;T;T	0.78126	-0.09;-0.09;-0.12;-1.15;0.08	5.74	5.74	0.90152	.	0.311125	0.36740	N	0.002439	T	0.81555	0.4847	L	0.27053	0.805	0.80722	D	1	D;P	0.89917	1.0;0.937	D;B	0.87578	0.998;0.403	T	0.79125	-0.1932	10	0.30078	T	0.28	-18.1856	17.6917	0.88270	0.0:0.0:1.0:0.0	.	146;146	Q96IU6;O43405	.;COCH_HUMAN	R	146;146;146;130;34;34	ENSP00000216361:G146R;ENSP00000379862:G146R;ENSP00000451528:G146R;ENSP00000452541:G130R;ENSP00000451713:G34R	ENSP00000216361:G146R	G	+	1	0	COCH	30418442	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.874000	0.69652	2.702000	0.92279	0.591000	0.81541	GGT		0.383	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086	Missense_Mutation	9	58	0	0	0	0.008291	0	9	58				
MAP2K1	5604	broad.mit.edu	37	15	66782908	66782908	+	Silent	SNP	C	C	T	rs150841154	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:66782908C>T	ENST00000307102.5	+	11	1668	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	CTD-3185P2.2_ENST00000602360.1_RNA|SNAPC5_ENST00000563480.2_3'UTR|CTD-3185P2.1_ENST00000565387.1_RNA|MAP2K1_ENST00000566326.1_Silent_p.I203I|SNAPC5_ENST00000395589.2_3'UTR	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	379					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GCTCCACCATCGGCCTTAACC	0.532													C|||	7	0.00139776	0.003	0.0029	5008	,	,		20340	0.0		0.001	False		,,,				2504	0.0					ENST00000307102.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						c.(1135-1137)atC>atT		mitogen-activated protein kinase kinase 1		C	,	10,4392	17.9+/-39.9	0,10,2191	144.0	135.0	138.0		1137,	-7.3	0.8	15	dbSNP_134	138	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,utr-3	MAP2K1,SNAPC5	NM_002755.3,NM_006049.2	,	0,12,6488	TT,TC,CC		0.0233,0.2272,0.0923	,	379/394,	66782908	12,12988	2201	4299	6500	SO:0001819	synonymous_variant	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66782908C>T	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.1137C>T	15.37:g.66782908C>T						SNAPC5_ENST00000395589.2_3'UTR|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000563480.2_3'UTR|MAP2K1_ENST00000566326.1_Silent_p.I203I	p.I379I	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN			11	1668	+			379						Silent	SNP	ENST00000307102.5	37	c.1137C>T	CCDS10216.1																																																																																				0.532	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			40	82	0	0	0	0.007835	0	40	82				
RBM34	23029	broad.mit.edu	37	1	235295270	235295270	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:235295270C>G	ENST00000408888.3	-	11	1281	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	RBM34_ENST00000366606.3_Missense_Mutation_p.E346Q|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	351	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CCCATGAGTTCAGAATTATTT	0.318																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(1051-1053)Gaa>Caa		RNA binding motif protein 34							70.0	64.0	66.0					1																	235295270		1805	4070	5875	SO:0001583	missense	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235295270C>G		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1051G>C	1.37:g.235295270C>G	ENSP00000386226:p.Glu351Gln					RBM34_ENST00000366606.3_Missense_Mutation_p.E346Q|RBM34_ENST00000495224.1_5'UTR	p.E351Q			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		11	1281	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	351			RRM 2.		A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	c.1051G>C	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018198	0.75275	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.17054	2.3;2.3;2.3	5.64	5.64	0.86602	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.141330	0.64402	D	0.000006	T	0.20740	0.0499	L	0.45352	1.415	0.80722	D	1	P	0.37423	0.594	B	0.41412	0.356	T	0.01800	-1.1271	10	0.21540	T	0.41	-33.4987	17.8898	0.88867	0.0:1.0:0.0:0.0	.	351	P42696	RBM34_HUMAN	Q	351;346;329	ENSP00000386226:E351Q;ENSP00000355565:E346Q;ENSP00000400000:E329Q	ENSP00000355565:E346Q	E	-	1	0	RBM34	233361893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.609000	0.54117	2.660000	0.90430	0.563000	0.77884	GAA		0.318	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		12	43	0	0	0	0.016723	0	12	43				
LAMA4	3910	broad.mit.edu	37	6	112465999	112465999	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:112465999G>C	ENST00000230538.7	-	19	2887	c.2490C>G	c.(2488-2490)agC>agG	p.S830R	LAMA4_ENST00000522006.1_Missense_Mutation_p.S823R|LAMA4_ENST00000424408.2_Missense_Mutation_p.S823R|LAMA4_ENST00000389463.4_Missense_Mutation_p.S823R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	830	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTACCTTGCTGGCAACAC	0.512																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2488-2490)agC>agG		laminin, alpha 4							111.0	111.0	111.0					6																	112465999		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112465999G>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2490C>G	6.37:g.112465999G>C	ENSP00000230538:p.Ser830Arg					LAMA4_ENST00000389463.4_Missense_Mutation_p.S823R|LAMA4_ENST00000522006.1_Missense_Mutation_p.S823R|LAMA4_ENST00000424408.2_Missense_Mutation_p.S823R	p.S830R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	19	2887	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	830			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2490C>G	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233178	0.58777	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin II (1);	0.162448	0.64402	D	0.000002	T	0.40423	0.1116	M	0.69823	2.125	0.80722	D	1	P;P	0.39717	0.684;0.634	B;B	0.41036	0.346;0.234	T	0.49062	-0.8978	10	0.72032	D	0.01	.	12.5526	0.56236	0.0753:0.0:0.9247:0.0	.	830;823	Q16363;Q16363-2	LAMA4_HUMAN;.	R	830;823;823;823	ENSP00000230538:S830R;ENSP00000429488:S823R;ENSP00000374114:S823R;ENSP00000416470:S823R	ENSP00000230538:S830R	S	-	3	2	LAMA4	112572692	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.661000	0.54503	2.780000	0.95670	0.655000	0.94253	AGC		0.512	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		21	82	0	0	0	0.012319	0	21	82				
ASPA	443	broad.mit.edu	37	17	3385074	3385074	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:3385074G>C	ENST00000263080.2	+	2	572	c.414G>C	c.(412-414)caG>caC	p.Q138H	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.Q138H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTTTAATTCAGATGTTTCATT	0.318																																						ENST00000263080.2																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17						c.(412-414)caG>caC		aspartoacylase	L-Aspartic Acid(DB00128)						55.0	52.0	53.0					17																	3385074		2203	4299	6502	SO:0001583	missense	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3385074G>C	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.414G>C	17.37:g.3385074G>C	ENSP00000263080:p.Gln138His					ASPA_ENST00000456349.2_Missense_Mutation_p.Q138H|SPATA22_ENST00000541913.1_Intron	p.Q138H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN			2	572	+			138						Missense_Mutation	SNP	ENST00000263080.2	37	c.414G>C	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	g	6.871	0.530148	0.13127	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97731	-4.51;-4.51	5.61	2.49	0.30216	.	0.000000	0.85682	D	0.000000	D	0.94961	0.8370	L	0.41573	1.285	0.80722	D	1	P	0.47762	0.9	P	0.47573	0.55	D	0.90909	0.4774	10	0.13108	T	0.6	-11.0963	8.4731	0.32997	0.3522:0.0:0.6478:0.0	.	138	P45381	ACY2_HUMAN	H	138	ENSP00000409976:Q138H;ENSP00000263080:Q138H	ENSP00000263080:Q138H	Q	+	3	2	ASPA	3331824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.188000	0.32102	0.375000	0.24679	0.557000	0.71058	CAG		0.318	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		3	22	0	0	0	0.004672	0	3	22				
DNAH3	55567	broad.mit.edu	37	16	20981224	20981224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:20981224G>A	ENST00000261383.3	-	52	8347	c.8348C>T	c.(8347-8349)tCg>tTg	p.S2783L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2783	Stalk. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCACCAGCGAGATGTCGGC	0.592																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8347-8349)tCg>tTg		dynein, axonemal, heavy chain 3							138.0	118.0	124.0					16																	20981224		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20981224G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8348C>T	16.37:g.20981224G>A	ENSP00000261383:p.Ser2783Leu					DNAH3_ENST00000415178.1_3'UTR	p.S2783L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	8347	-			2783			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.8348C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678781	0.47886	.	.	ENSG00000158486	ENST00000261383	T	0.74421	-0.84	5.97	5.97	0.96955	Dynein heavy chain, coiled coil stalk (1);	0.399095	0.22606	N	0.057896	T	0.81498	0.4835	M	0.88512	2.96	0.80722	D	1	P	0.48089	0.905	B	0.41571	0.36	D	0.85374	0.1115	10	0.72032	D	0.01	.	20.5014	0.99208	0.0:0.0:1.0:0.0	.	2783	Q8TD57	DYH3_HUMAN	L	2783	ENSP00000261383:S2783L	ENSP00000261383:S2783L	S	-	2	0	DNAH3	20888725	1.000000	0.71417	0.941000	0.38009	0.004000	0.04260	6.533000	0.73829	2.856000	0.98102	0.644000	0.83932	TCG		0.592	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		35	86	0	0	0	0.015359	0	35	86				
PRR5L	79899	broad.mit.edu	37	11	36472865	36472865	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:36472865C>G	ENST00000378867.3	+	9	1047	c.692C>G	c.(691-693)tCa>tGa	p.S231*	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.S158*|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.S231*|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	231					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CGTAGCTTCTCAGGCCCCACG	0.537																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(691-693)tCa>tGa		proline rich 5 like							119.0	95.0	103.0					11																	36472865		2202	4298	6500	SO:0001587	stop_gained	79899							g.chr11:36472865C>G		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.692C>G	11.37:g.36472865C>G	ENSP00000368144:p.Ser231*					PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.S231*|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.S158*	p.S231*	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			9	1047	+			231					A4QN22|E9PKY1|Q96H46|Q9H7V4	Nonsense_Mutation	SNP	ENST00000378867.3	37	c.692C>G	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	37	6.206409	0.97376	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	.	.	.	5.16	5.16	0.70880	.	0.772655	0.11964	N	0.512458	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.1831	16.4084	0.83698	0.0:1.0:0.0:0.0	.	.	.	.	X	231;158;231	.	ENSP00000310103:S158X	S	+	2	0	PRR5L	36429441	0.035000	0.19736	0.835000	0.33067	0.208000	0.24298	3.014000	0.49590	2.417000	0.82017	0.313000	0.20887	TCA		0.537	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		13	37	0	0	0	0.016723	0	13	37				
USP8	9101	broad.mit.edu	37	15	50791262	50791262	+	Nonsense_Mutation	SNP	C	C	T	rs142928952		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:50791262C>T	ENST00000396444.3	+	20	3672	c.3334C>T	c.(3334-3336)Cga>Tga	p.R1112*	USP50_ENST00000530218.1_5'Flank|USP8_ENST00000425032.3_Nonsense_Mutation_p.R1006*|USP8_ENST00000433963.1_Nonsense_Mutation_p.R1112*|USP8_ENST00000307179.4_Nonsense_Mutation_p.R1112*|RP11-562A8.5_ENST00000560159.1_lincRNA|RP11-562A8.4_ENST00000560380.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1112					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTGGGACCACGAGTAACTGA	0.368																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(3334-3336)Cga>Tga		ubiquitin specific peptidase 8							59.0	58.0	58.0					15																	50791262		2195	4292	6487	SO:0001587	stop_gained	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50791262C>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.3334C>T	15.37:g.50791262C>T	ENSP00000379721:p.Arg1112*					USP8_ENST00000425032.3_Nonsense_Mutation_p.R1006*|USP8_ENST00000396444.3_Nonsense_Mutation_p.R1112*|USP8_ENST00000307179.4_Nonsense_Mutation_p.R1112*	p.R1112*	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	21	3834	+			1112					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Nonsense_Mutation	SNP	ENST00000396444.3	37	c.3334C>T	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	43	10.294480	0.99377	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	.	.	.	5.44	4.5	0.54988	.	0.099633	0.43260	D	0.000595	.	.	.	.	.	.	0.44042	D	0.996773	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3812	14.7671	0.69648	0.2618:0.7382:0.0:0.0	.	.	.	.	X	1112;1112;1112;1006;330;325	.	ENSP00000302239:R1112X	R	+	1	2	USP8	48578554	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	1.626000	0.37039	1.367000	0.46095	0.585000	0.79938	CGA		0.368	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		12	33	0	0	0	0.010729	0	12	33				
PUS7	54517	broad.mit.edu	37	7	105098338	105098338	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:105098338G>C	ENST00000356362.2	-	16	2099	c.1885C>G	c.(1885-1887)Cta>Gta	p.L629V	PUS7_ENST00000469408.1_Missense_Mutation_p.L629V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	629					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GAAGGGGGTAGAGAAAAATCC	0.473																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(1885-1887)Cta>Gta		pseudouridylate synthase 7 homolog (S. cerevisiae)							150.0	139.0	143.0					7																	105098338		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105098338G>C	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1885C>G	7.37:g.105098338G>C	ENSP00000348722:p.Leu629Val					PUS7_ENST00000469408.1_Missense_Mutation_p.L629V	p.L629V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			16	2099	-			629					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.1885C>G	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455742	0.84209	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.59906	0.23;0.23	5.86	5.86	0.93980	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86123	0.1570	10	0.87932	D	0	.	12.819	0.57681	0.0741:0.0:0.9259:0.0	.	629;629	B3KY42;Q96PZ0	.;PUS7_HUMAN	V	629	ENSP00000348722:L629V;ENSP00000417402:L629V	ENSP00000348722:L629V	L	-	1	2	PUS7	104885574	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.360000	0.73064	2.937000	0.99478	0.650000	0.86243	CTA		0.473	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		32	88	0	0	0	0.010818	0	32	88				
XRCC6	2547	broad.mit.edu	37	22	42033722	42033722	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:42033722G>C	ENST00000359308.4	+	5	1355	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	XRCC6_ENST00000405506.1_Missense_Mutation_p.E184Q|XRCC6_ENST00000360079.3_Missense_Mutation_p.E234Q|XRCC6_ENST00000405878.1_Missense_Mutation_p.E234Q|XRCC6_ENST00000428575.2_Missense_Mutation_p.E101Q|XRCC6_ENST00000402580.3_Missense_Mutation_p.E193Q			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	234					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTCACTTTGAGGAATCCAG	0.537								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(700-702)Gag>Cag	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							48.0	41.0	43.0					22																	42033722		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42033722G>C	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.700G>C	22.37:g.42033722G>C	ENSP00000352257:p.Glu234Gln					XRCC6_ENST00000428575.2_Missense_Mutation_p.E101Q|XRCC6_ENST00000360079.3_Missense_Mutation_p.E234Q|XRCC6_ENST00000402580.3_Missense_Mutation_p.E193Q|XRCC6_ENST00000405878.1_Missense_Mutation_p.E234Q|XRCC6_ENST00000405506.1_Missense_Mutation_p.E184Q	p.E234Q			P12956	XRCC6_HUMAN			5	1355	+			234					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.700G>C	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971006	0.53614	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.6	5.6	0.85130	Ku70/Ku80, N-terminal alpha/beta (1);	0.090075	0.85682	D	0.000000	T	0.50069	0.1594	L	0.39397	1.21	0.58432	D	0.99999	B;B;B;B	0.25904	0.019;0.011;0.137;0.042	B;B;B;B	0.32677	0.055;0.028;0.15;0.055	T	0.46034	-0.9220	9	0.35671	T	0.21	-30.9788	11.0331	0.47785	0.1433:0.0:0.8567:0.0	.	184;234;193;234	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	Q	234;193;101;234;234;234;184	.	ENSP00000352257:E234Q	E	+	1	0	XRCC6	40363668	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.706000	0.54830	2.628000	0.89032	0.655000	0.94253	GAG		0.537	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		3	18	0	0	0	0.004672	0	3	18				
PCNXL2	80003	broad.mit.edu	37	1	233394516	233394516	+	Silent	SNP	G	G	A	rs371787723		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:233394516G>A	ENST00000258229.9	-	5	1326	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	364						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGGGTCTCCGGGTTGAGAAG	0.517																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1090-1092)ccC>ccT		pecanex-like 2 (Drosophila)		G		0,3954		0,0,1977	90.0	91.0	91.0		1092	-5.1	0.2	1		91	1,8333		0,1,4166	no	coding-synonymous	PCNXL2	NM_014801.3		0,1,6143	AA,AG,GG		0.012,0.0,0.0081		364/2138	233394516	1,12287	1977	4167	6144	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233394516G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1092C>T	1.37:g.233394516G>A						PCNXL2_ENST00000430153.1_5'UTR	p.P364P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			5	1326	-		all_cancers(173;0.0347)|Prostate(94;0.137)	364					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.1092C>T	CCDS44335.1																																																																																				0.517	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		29	119	0	0	0	0.005443	0	29	119				
SIPA1L1	26037	broad.mit.edu	37	14	72055505	72055505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:72055505G>C	ENST00000555818.1	+	2	1264	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E306Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E306Q	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	306					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAAAGGTGAAGAACTTGGGAA	0.433																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(916-918)Gaa>Caa		signal-induced proliferation-associated 1 like 1							67.0	71.0	69.0					14																	72055505		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055505G>C	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.916G>C	14.37:g.72055505G>C	ENSP00000450832:p.Glu306Gln					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E306Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E306Q	p.E306Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1264	+			306					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.916G>C	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517645	0.44763	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.43294	0.95;0.95;0.95	6.07	6.07	0.98685	.	0.195423	0.56097	D	0.000038	T	0.56247	0.1972	L	0.42245	1.32	0.80722	D	1	P;D;D	0.55172	0.946;0.97;0.963	B;D;B	0.63703	0.418;0.917;0.444	T	0.32561	-0.9902	10	0.19147	T	0.46	-20.8382	20.6593	0.99626	0.0:0.0:1.0:0.0	.	306;306;306	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	Q	306	ENSP00000370630:E306Q;ENSP00000450832:E306Q;ENSP00000351352:E306Q	ENSP00000351352:E306Q	E	+	1	0	SIPA1L1	71125258	1.000000	0.71417	0.991000	0.47740	0.193000	0.23685	7.733000	0.84916	2.885000	0.99019	0.655000	0.94253	GAA		0.433	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		13	47	0	0	0	0.013537	0	13	47				
FRAS1	80144	broad.mit.edu	37	4	79403007	79403007	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:79403007C>T	ENST00000264895.6	+	57	8933	c.8493C>T	c.(8491-8493)ttC>ttT	p.F2831F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2827	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTCTACTTTCGCATCTGTCT	0.493																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8491-8493)ttC>ttT		Fraser syndrome 1							197.0	200.0	199.0					4																	79403007		1930	4131	6061	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403007C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8493C>T	4.37:g.79403007C>T							p.F2831F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			57	8933	+			2826			Calx-beta 3.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.8493C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	4.656	0.121945	0.08931	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.57	2.85	0.33270	.	.	.	.	.	T	0.54175	0.1842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46610	-0.9179	4	.	.	.	.	5.8211	0.18528	0.0:0.5948:0.1305:0.2747	.	.	.	.	C	1060	.	.	R	+	1	0	FRAS1	79622031	0.939000	0.31865	0.995000	0.50966	0.410000	0.31052	0.338000	0.19858	0.687000	0.31509	0.650000	0.86243	CGC		0.493	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				63	180	0	0	0	0.014410	0	63	180				
UNC13B	10497	broad.mit.edu	37	9	35403456	35403456	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:35403456C>T	ENST00000378495.3	+	38	4572	c.4350C>T	c.(4348-4350)ctC>ctT	p.L1450L	UNC13B_ENST00000378496.4_Silent_p.L1469L|UNC13B_ENST00000396787.1_Silent_p.L1481L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1450	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAATGACCTCAAGTGGCAGA	0.532																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4348-4350)ctC>ctT		unc-13 homolog B (C. elegans)							59.0	59.0	59.0					9																	35403456		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35403456C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4350C>T	9.37:g.35403456C>T						UNC13B_ENST00000396787.1_Silent_p.L1481L|UNC13B_ENST00000378496.4_Silent_p.L1469L	p.L1450L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		38	4572	+	all_epithelial(49;0.212)		1450			C2 3.		Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.4350C>T	CCDS6579.1																																																																																				0.532	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		27	47	0	0	0	0.008361	0	27	47				
NCAPD3	23310	broad.mit.edu	37	11	134072795	134072795	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:134072795A>G	ENST00000534548.2	-	13	1595	c.1531T>C	c.(1531-1533)Tcc>Ccc	p.S511P		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	511					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTTGGTAGGAAAAAGCTTTA	0.348																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1531-1533)Tcc>Ccc		non-SMC condensin II complex, subunit D3							102.0	98.0	99.0					11																	134072795		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134072795A>G	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1531T>C	11.37:g.134072795A>G	ENSP00000433681:p.Ser511Pro						p.S511P	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	13	1595	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	511					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.1531T>C	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	A	9.775	1.173722	0.21704	.	.	ENSG00000151503	ENST00000534548	T	0.62941	-0.01	4.78	2.4	0.29515	Armadillo-type fold (1);	0.816905	0.11540	N	0.553859	T	0.46698	0.1406	L	0.33485	1.01	0.38862	D	0.956512	B	0.06786	0.001	B	0.06405	0.002	T	0.37291	-0.9712	10	0.46703	T	0.11	0.5553	4.2398	0.10642	0.7258:0.0:0.0977:0.1765	.	511	P42695	CNDD3_HUMAN	P	511	ENSP00000433681:S511P	ENSP00000431612:S511P	S	-	1	0	NCAPD3	133578005	1.000000	0.71417	0.087000	0.20705	0.009000	0.06853	1.256000	0.32921	0.263000	0.21812	0.528000	0.53228	TCC		0.348	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		16	16	0	0	0	0.004007	0	16	16				
ZNF711	7552	broad.mit.edu	37	X	84525039	84525039	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:84525039G>C	ENST00000373165.3	+	8	1301	c.995G>C	c.(994-996)aGa>aCa	p.R332T	ZNF711_ENST00000395402.1_Missense_Mutation_p.R340T|ZNF711_ENST00000360700.4_Missense_Mutation_p.R378T|ZNF711_ENST00000276123.3_Missense_Mutation_p.R332T|ZNF711_ENST00000542798.1_Missense_Mutation_p.R174T	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	332					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTAGAAAGCAGAAGTAGTACA	0.333																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(1132-1134)aGa>aCa		zinc finger protein 711							93.0	88.0	90.0					X																	84525039		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84525039G>C	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.995G>C	X.37:g.84525039G>C	ENSP00000362260:p.Arg332Thr					ZNF711_ENST00000373165.3_Missense_Mutation_p.R332T|ZNF711_ENST00000276123.3_Missense_Mutation_p.R332T|ZNF711_ENST00000395402.1_Missense_Mutation_p.R340T|ZNF711_ENST00000542798.1_Missense_Mutation_p.R174T	p.R378T			Q9Y462	ZN711_HUMAN			9	2019	+			332					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.1133G>C	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090755	0.36855	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.73	3.72	0.42706	Transcriptional activator, Zfx / Zfy domain (1);	0.161017	0.28834	U	0.013996	T	0.31358	0.0794	L	0.38175	1.15	0.35146	D	0.769331	B;B	0.31413	0.0;0.322	B;B	0.28139	0.002;0.086	T	0.46610	-0.9179	10	0.72032	D	0.01	-12.9971	3.0814	0.06264	0.5349:0.0:0.4651:0.0	.	378;332	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	T	340;332;332;378;174	ENSP00000378798:R340T;ENSP00000362260:R332T;ENSP00000276123:R332T;ENSP00000353922:R378T;ENSP00000442071:R174T	ENSP00000276123:R332T	R	+	2	0	ZNF711	84411695	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	5.147000	0.64851	1.924000	0.55735	0.556000	0.70494	AGA		0.333	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		8	30	0	0	0	0.004482	0	8	30				
SLC31A1	1317	broad.mit.edu	37	9	116028637	116028637	+	IGR	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:116028637A>G	ENST00000374212.4	+	0	4744				CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Missense_Mutation_p.E177G	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1						cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATGATTCAAGAGGCTCTTATG	0.473																																					Ovarian(135;1049 1799 4519 17564 28677)	ENST00000374210.6																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(529-531)gAg>gGg		solute carrier family 31 (copper transporter), member 1							17.0	15.0	16.0					9																	116028637		876	1991	2867	SO:0001628	intergenic_variant	1317					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:116028637A>G	U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"""Solute carriers"""	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519		9.37:g.116028637A>G						CDC26_ENST00000490408.1_Intron	p.E177G			O15431	COPT1_HUMAN			6	716	+			60					A8K8Z6|Q53GR5|Q5T1M4	Missense_Mutation	SNP	ENST00000374212.4	37	c.530A>G	CCDS6789.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443893	0.25987	.	.	ENSG00000136868	ENST00000374210	T	0.76709	-1.04	2.72	1.57	0.23409	.	.	.	.	.	T	0.66218	0.2767	.	.	.	0.09310	N	1	B	0.19073	0.033	B	0.25140	0.058	T	0.58951	-0.7545	8	0.87932	D	0	.	4.4206	0.11479	0.84:0.0:0.16:0.0	.	177	Q5T1M3	.	G	177	ENSP00000363327:E177G	ENSP00000363327:E177G	E	+	2	0	SLC31A1	115068458	0.001000	0.12720	0.005000	0.12908	0.011000	0.07611	0.653000	0.24902	0.451000	0.26802	0.533000	0.62120	GAG		0.473	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859		4	5	0	0	0	0.009096	0	4	5				
TMCC3	57458	broad.mit.edu	37	12	94975422	94975422	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:94975422T>A	ENST00000261226.4	-	2	1102	c.971A>T	c.(970-972)cAg>cTg	p.Q324L	TMCC3_ENST00000551457.1_Missense_Mutation_p.Q293L	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	324						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTGCAGGGTCTGAGAAATAAA	0.353																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(970-972)cAg>cTg		transmembrane and coiled-coil domain family 3							57.0	57.0	57.0					12																	94975422		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975422T>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.971A>T	12.37:g.94975422T>A	ENSP00000261226:p.Gln324Leu					TMCC3_ENST00000551457.1_Missense_Mutation_p.Q293L	p.Q324L	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	1102	-			324					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.971A>T	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894734	0.72639	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.48201	0.82;0.82	5.93	5.93	0.95920	.	0.048468	0.85682	D	0.000000	T	0.67202	0.2868	M	0.76574	2.34	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.68973	-0.5268	10	0.51188	T	0.08	-39.7552	16.3829	0.83481	0.0:0.0:0.0:1.0	.	324	Q9ULS5	TMCC3_HUMAN	L	324;293	ENSP00000261226:Q324L;ENSP00000449888:Q293L	ENSP00000261226:Q324L	Q	-	2	0	TMCC3	93499553	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.263000	0.72521	2.271000	0.75665	0.459000	0.35465	CAG		0.353	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		15	50	0	0	0	0.003163	0	15	50				
ZNF79	7633	broad.mit.edu	37	9	130206706	130206706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:130206706C>T	ENST00000342483.5	+	5	1133	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	ZNF79_ENST00000543471.1_Missense_Mutation_p.H219Y	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCAGAGGATTCACACTGGAGA	0.537																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(727-729)Cac>Tac		zinc finger protein 79							83.0	80.0	81.0					9																	130206706		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206706C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.727C>T	9.37:g.130206706C>T	ENSP00000362446:p.His243Tyr					ZNF79_ENST00000543471.1_Missense_Mutation_p.H219Y	p.H243Y	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1133	+			243					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.727C>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986623	0.74589	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	D;D	0.88896	-2.44;-2.44	3.83	3.83	0.44106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95784	0.8628	H	0.95365	3.66	0.46203	D	0.998929	D	0.76494	0.999	D	0.87578	0.998	D	0.96744	0.9549	9	0.87932	D	0	.	13.286	0.60243	0.0:1.0:0.0:0.0	.	243	Q15937	ZNF79_HUMAN	Y	243;219	ENSP00000362446:H243Y;ENSP00000438418:H219Y	ENSP00000362446:H243Y	H	+	1	0	ZNF79	129246527	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.843000	0.75384	1.973000	0.57446	0.655000	0.94253	CAC		0.537	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		15	59	0	0	0	0.002450	0	15	59				
KCNH8	131096	broad.mit.edu	37	3	19295208	19295208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:19295208G>A	ENST00000328405.2	+	2	405	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	47	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTACTGTTCCGATGGCTTCTG	0.453																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(139-141)Gat>Aat		potassium voltage-gated channel, subfamily H (eag-related), member 8							184.0	186.0	185.0					3																	19295208		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19295208G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.139G>A	3.37:g.19295208G>A	ENSP00000328813:p.Asp47Asn						p.D47N	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			2	405	+			47			PAS.		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.139G>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551994	0.96501	.	.	ENSG00000183960	ENST00000328405	D	0.99582	-6.22	5.58	5.58	0.84498	PAS fold-3 (1);PAS (1);	0.000000	0.32372	U	0.006186	D	0.99609	0.9858	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98554	1.0638	9	.	.	.	.	19.5716	0.95423	0.0:0.0:1.0:0.0	.	47;47	B7Z398;Q96L42	.;KCNH8_HUMAN	N	47	ENSP00000328813:D47N	.	D	+	1	0	KCNH8	19270212	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.771000	0.98977	2.611000	0.88343	0.655000	0.94253	GAT		0.453	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		12	103	0	0	0	0.010729	0	12	103				
ADAMTS7	11173	broad.mit.edu	37	15	79067056	79067056	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:79067056G>A	ENST00000388820.4	-	12	1996	c.1786C>T	c.(1786-1788)Cgc>Tgc	p.R596C	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	596	Cys-rich.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AAGGAGGGGCGGCCAGCAGGG	0.632																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(1786-1788)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 7							47.0	54.0	51.0					15																	79067056		2196	4291	6487	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79067056G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1786C>T	15.37:g.79067056G>A	ENSP00000373472:p.Arg596Cys					ADAMTS7_ENST00000566303.1_Intron	p.R596C	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			12	1996	-			596			Cys-rich.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.1786C>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783918	0.31593	.	.	ENSG00000136378	ENST00000388820	T	0.00441	7.41	3.51	2.55	0.30701	.	1.548120	0.03595	N	0.232532	T	0.00637	0.0021	M	0.70275	2.135	0.09310	N	1	D;D	0.69078	0.96;0.997	P;P	0.46452	0.513;0.517	T	0.55250	-0.8170	10	0.54805	T	0.06	.	9.2505	0.37551	0.0:0.0:0.4741:0.5258	.	596;596	A8MQ00;Q9UKP4	.;ATS7_HUMAN	C	596	ENSP00000373472:R596C	ENSP00000373472:R596C	R	-	1	0	ADAMTS7	76854111	0.950000	0.32346	0.012000	0.15200	0.724000	0.41520	1.818000	0.39012	0.785000	0.33685	0.289000	0.19496	CGC		0.632	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		10	39	0	0	0	0.006214	0	10	39				
TANC1	85461	broad.mit.edu	37	2	160086120	160086120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:160086120G>A	ENST00000263635.6	+	27	4420	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K	TANC1_ENST00000454300.1_Missense_Mutation_p.E1289K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1395					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGACCTGCAAGAGGCTGTGAA	0.473																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(4183-4185)Gag>Aag		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							24.0	28.0	27.0					2																	160086120		1990	4163	6153	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160086120G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4183G>A	2.37:g.160086120G>A	ENSP00000263635:p.Glu1395Lys					TANC1_ENST00000454300.1_Missense_Mutation_p.E1289K	p.E1395K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	4420	+			1395					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.4183G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670389	0.96754	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.71103	-0.54;-0.54	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	L	0.28608	0.87	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74160	-0.3755	9	.	.	.	.	20.3125	0.98645	0.0:0.0:1.0:0.0	.	1395	Q9C0D5	TANC1_HUMAN	K	1289;1395	ENSP00000396339:E1289K;ENSP00000263635:E1395K	.	E	+	1	0	TANC1	159794366	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.824000	0.99380	2.806000	0.96561	0.655000	0.94253	GAG		0.473	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			9	40	0	0	0	0.004482	0	9	40				
RADIL	55698	broad.mit.edu	37	7	4856042	4856042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:4856042G>A	ENST00000399583.3	-	8	1970	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	RADIL_ENST00000536091.1_Missense_Mutation_p.A541V|RADIL_ENST00000538469.1_Missense_Mutation_p.R355C	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	595	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCTCACGGCGCTCCGTCTGG	0.677																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1783-1785)Cgc>Tgc		Ras association and DIL domains							11.0	17.0	15.0					7																	4856042		1960	4116	6076	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4856042G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1783C>T	7.37:g.4856042G>A	ENSP00000382492:p.Arg595Cys					RADIL_ENST00000538469.1_Missense_Mutation_p.R355C|RADIL_ENST00000536091.1_Missense_Mutation_p.A541V	p.R595C	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	8	1970	-		Ovarian(82;0.0175)	595			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.1783C>T	CCDS43544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.727|8.727	0.915709|0.915709	0.17907|0.17907	.|.	.|.	ENSG00000157927|ENSG00000157927	ENST00000536091|ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T|T;T	0.24538|0.07444	1.85|3.29;3.19	5.39|5.39	1.22|1.22	0.21188|0.21188	.|Dilute (1);	.|0.407880	.|0.27682	.|N	.|0.018297	T|T	0.03959|0.03959	0.0111|0.0111	N|N	0.16478|0.16478	0.41|0.41	0.22017|0.22017	N|N	0.999418|0.999418	.|B	.|0.17667	.|0.023	.|B	.|0.06405	.|0.002	T|T	0.34551|0.34551	-0.9824|-0.9824	7|10	0.87932|0.54805	D|T	0|0.06	-10.039|-10.039	1.1673|1.1673	0.01818|0.01818	0.1736:0.2301:0.3703:0.226|0.1736:0.2301:0.3703:0.226	.|.	.|595	.|Q96JH8	.|RADIL_HUMAN	V|C	541|595;566;329;355	ENSP00000442533:A541V|ENSP00000382492:R595C;ENSP00000442966:R355C	ENSP00000442533:A541V|ENSP00000320946:R566C	A|R	-|-	2|1	0|0	RADIL|RADIL	4822568|4822568	0.000000|0.000000	0.05858|0.05858	0.985000|0.985000	0.45067|0.45067	0.057000|0.057000	0.15508|0.15508	-0.641000|-0.641000	0.05434|0.05434	0.652000|0.652000	0.30806|0.30806	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.677	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		4	15	0	0	0	0.009096	0	4	15				
PCLO	27445	broad.mit.edu	37	7	82579179	82579179	+	Silent	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:82579179T>A	ENST00000333891.9	-	6	11062	c.10725A>T	c.(10723-10725)acA>acT	p.T3575T	PCLO_ENST00000423517.2_Silent_p.T3575T|PCLO_ENST00000437081.1_Silent_p.T295T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGACTTTGTGTGTCTGAAT	0.438																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(10723-10725)acA>acT		piccolo presynaptic cytomatrix protein							188.0	181.0	184.0					7																	82579179		2044	4193	6237	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579179T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10725A>T	7.37:g.82579179T>A						PCLO_ENST00000437081.1_Silent_p.T295T|PCLO_ENST00000333891.8_Silent_p.T3575T	p.T3575T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	11062	-			3506						Silent	SNP	ENST00000333891.9	37	c.10725A>T	CCDS47630.1																																																																																				0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	48	0	0	0	0.008871	0	18	48				
SYNE1	23345	broad.mit.edu	37	6	152763311	152763311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:152763311C>T	ENST00000367255.5	-	31	4508	c.3907G>A	c.(3907-3909)Gaa>Aaa	p.E1303K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1369K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1293K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1303K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1303K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1303					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCCCCCCTTCTCCCTGCTGC	0.582										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3907-3909)Gaa>Aaa		spectrin repeat containing, nuclear envelope 1							73.0	66.0	69.0					6																	152763311		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763311C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3907G>A	6.37:g.152763311C>T	ENSP00000356224:p.Glu1303Lys	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.E1303K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1369K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1293K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1303K	p.E1303K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4508	-		Ovarian(120;0.0955)	1303					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3907G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375679	0.42105	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88354	0.62;0.61;0.53;0.61;0.71;-2.16;-2.37;-2.36	5.41	5.41	0.78517	.	0.112562	0.38436	N	0.001686	D	0.88198	0.6372	M	0.64997	1.995	0.80722	D	1	P;P;P;P;P;P	0.49862	0.856;0.611;0.852;0.929;0.611;0.73	B;B;B;P;B;B	0.51079	0.129;0.159;0.281;0.658;0.159;0.302	D	0.85137	0.0978	10	0.16420	T	0.52	.	19.5512	0.95322	0.0:1.0:0.0:0.0	.	1286;1303;1293;1303;1303;1310	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	K	1303;1310;1303;1310;1369;1303;1293;1303	ENSP00000356224:E1303K;ENSP00000396024:E1310K;ENSP00000265368:E1303K;ENSP00000390975:E1310K;ENSP00000341887:E1369K;ENSP00000356222:E1303K;ENSP00000356217:E1293K;ENSP00000414510:E1303K	ENSP00000265368:E1303K	E	-	1	0	SYNE1	152805004	1.000000	0.71417	0.361000	0.25849	0.124000	0.20399	6.309000	0.72825	2.685000	0.91497	0.650000	0.86243	GAA		0.582	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	60	0	0	0	0.008871	0	18	60				
ZNF622	90441	broad.mit.edu	37	5	16465329	16465329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:16465329G>A	ENST00000308683.2	-	1	572	c.446C>T	c.(445-447)cCa>cTa	p.P149L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	149					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGCAGGCGCTGGGGGCGCCTT	0.652																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(445-447)cCa>cTa		zinc finger protein 622							81.0	83.0	83.0					5																	16465329		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465329G>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.446C>T	5.37:g.16465329G>A	ENSP00000310042:p.Pro149Leu						p.P149L	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			1	572	-			149						Missense_Mutation	SNP	ENST00000308683.2	37	c.446C>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425370	0.25639	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.46	1.67	0.24075	.	1.157390	0.06224	N	0.687249	T	0.30135	0.0755	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24941	-1.0146	9	0.19147	T	0.46	-24.2292	7.6932	0.28579	0.4416:0.0:0.5584:0.0	.	149	Q969S3	ZN622_HUMAN	L	149	.	ENSP00000310042:P149L	P	-	2	0	ZNF622	16518329	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	0.832000	0.27490	0.140000	0.18849	0.650000	0.86243	CCA		0.652	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		65	92	0	0	0	0.014410	0	65	92				
ZNF28	7576	broad.mit.edu	37	19	53303120	53303120	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:53303120C>G	ENST00000457749.2	-	4	2097	c.1978G>C	c.(1978-1980)Gag>Cag	p.E660Q	ZNF28_ENST00000360272.4_Missense_Mutation_p.E607Q|ZNF28_ENST00000438150.2_Missense_Mutation_p.E607Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.E607Q	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TAAGGTTTCTCTCCACTATGA	0.423																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1819-1821)Gag>Cag		zinc finger protein 28							170.0	160.0	163.0					19																	53303120		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303120C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1978G>C	19.37:g.53303120C>G	ENSP00000397693:p.Glu660Gln					ZNF28_ENST00000414252.2_Missense_Mutation_p.E607Q|ZNF28_ENST00000457749.2_Missense_Mutation_p.E660Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.E607Q	p.E607Q			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2712	-			660					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1819G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	16.88	3.244264	0.59103	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	1.81	1.81	0.25067	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26919	0.0659	L	0.45744	1.44	0.25326	N	0.98908	P	0.45902	0.868	P	0.44623	0.455	T	0.12116	-1.0560	9	0.72032	D	0.01	.	10.6341	0.45554	0.0:1.0:0.0:0.0	.	660	P17035	ZNF28_HUMAN	Q	607;660;607;607	ENSP00000412143:E607Q;ENSP00000397693:E660Q;ENSP00000353410:E607Q;ENSP00000444965:E607Q	ENSP00000353410:E607Q	E	-	1	0	ZNF28	57994932	0.009000	0.17119	0.286000	0.24833	0.064000	0.16182	2.414000	0.44627	0.995000	0.38917	0.298000	0.19748	GAG		0.423	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		26	231	0	0	0	0.018920	0	26	231				
UNC5D	137970	broad.mit.edu	37	8	35583721	35583721	+	Missense_Mutation	SNP	G	G	A	rs190579280	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:35583721G>A	ENST00000404895.2	+	10	1683	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q	UNC5D_ENST00000453357.2_Missense_Mutation_p.R447Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R28Q|UNC5D_ENST00000287272.2_Missense_Mutation_p.R383Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R457Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R385Q	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	452					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGTGAGCCGGACATACAGC	0.488													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19446	0.0		0.0	False		,,,				2504	0.0					ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1147-1149)cGg>cAg		unc-5 homolog D (C. elegans)		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	65.0	65.0	65.0		1355	6.0	1.0	8		65	0,8600		0,0,4300	yes	missense	UNC5D	NM_080872.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	452/954	35583721	1,13005	2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583721G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1355G>A	8.37:g.35583721G>A	ENSP00000385143:p.Arg452Gln					UNC5D_ENST00000416672.1_Missense_Mutation_p.R457Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.R452Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.R447Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R385Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R28Q	p.R383Q			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1168	+			452					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1148G>A	CCDS6093.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.2	3.952407	0.73787	2.27E-4	0.0	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.53857	0.63;1.08;1.09;0.63;0.6;2.49	6.04	6.04	0.98038	.	0.111373	0.64402	D	0.000010	T	0.39036	0.1063	L	0.29908	0.895	0.40738	D	0.982802	P;P;P;P	0.48503	0.911;0.522;0.597;0.462	B;B;B;B	0.28991	0.097;0.056;0.089;0.041	T	0.43956	-0.9359	10	0.46703	T	0.11	-14.7138	20.5948	0.99439	0.0:0.0:1.0:0.0	.	28;457;447;452	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	Q	452;385;383;457;447;28	ENSP00000385143:R452Q;ENSP00000392739:R385Q;ENSP00000287272:R383Q;ENSP00000412652:R457Q;ENSP00000394303:R447Q;ENSP00000397211:R28Q	ENSP00000287272:R383Q	R	+	2	0	UNC5D	35703263	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	7.611000	0.82962	2.873000	0.98535	0.563000	0.77884	CGG		0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			59	62	0	0	0	0.014410	0	59	62				
PLCE1	51196	broad.mit.edu	37	10	95791019	95791019	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:95791019T>C	ENST00000371380.3	+	1	451	c.216T>C	c.(214-216)atT>atC	p.I72I	PLCE1_ENST00000260766.3_Silent_p.I72I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	72					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCCAAAGATTCTCTCAATAG	0.393																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(214-216)atT>atC		phospholipase C, epsilon 1							69.0	64.0	66.0					10																	95791019		1868	4103	5971	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791019T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.216T>C	10.37:g.95791019T>C						PLCE1_ENST00000371380.2_Silent_p.I72I	p.I72I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	850	+		Colorectal(252;0.0458)	72					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.216T>C	CCDS41552.1																																																																																				0.393	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		14	29	0	0	0	0.004007	0	14	29				
PCDHB2	56133	broad.mit.edu	37	5	140476460	140476460	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:140476460T>C	ENST00000194155.4	+	1	2234	c.2086T>C	c.(2086-2088)Ttg>Ctg	p.L696L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	696					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCGTTGGCCTCGGT	0.697																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2086-2088)Ttg>Ctg									52.0	55.0	54.0					5																	140476460		2157	4188	6345	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476460T>C	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2086T>C	5.37:g.140476460T>C							p.L696L	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2234	+			696					Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.2086T>C	CCDS4244.1																																																																																				0.697	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		52	166	0	0	0	0.014410	0	52	166				
TMEM99	147184	broad.mit.edu	37	17	38991082	38991082	+	Missense_Mutation	SNP	C	C	T	rs201820044		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:38991082C>T	ENST00000301665.3	+	3	618	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	105						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTGTTGGCTCGTGGTTGCTC	0.468																																						ENST00000301665.3																			0				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10						c.(313-315)tCg>tTg		transmembrane protein 99		G	LEU/SER,LEU/SER,LEU/SER	0,3862		0,0,1931	158.0	156.0	157.0		314,314,314	-0.5	0.0	17		157	1,8287		0,1,4143	yes	missense,missense,missense	TMEM99	NM_001195386.1,NM_001195387.1,NM_145274.3	145,145,145	0,1,6074	TT,TC,CC		0.0121,0.0,0.0082	benign,benign,benign	105/259,105/259,105/259	38991082	1,12149	1931	4144	6075	SO:0001583	missense	147184					integral to membrane		g.chr17:38991082C>T	AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.314C>T	17.37:g.38991082C>T	ENSP00000301665:p.Ser105Leu						p.S105L	NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN			3	618	+		Breast(137;0.000301)	105					B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	c.314C>T	CCDS42319.1	.	.	.	.	.	.	.	.	.	.	G	8.020	0.759521	0.15846	0.0	1.21E-4	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.29142	1.58;1.58	0.235	-0.47	0.12131	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25745	-1.0123	8	0.87932	D	0	.	.	.	.	.	105	Q8N816	TMM99_HUMAN	L	105	ENSP00000390036:S105L;ENSP00000301665:S105L	ENSP00000301665:S105L	S	+	2	0	TMEM99	36244608	0.005000	0.15991	0.003000	0.11579	0.003000	0.03518	-1.587000	0.02108	-1.775000	0.01287	-1.751000	0.00678	TCG		0.468	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274		62	129	0	0	0	0.014410	0	62	129				
SHPRH	257218	broad.mit.edu	37	6	146245960	146245960	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:146245960T>A	ENST00000367505.2	-	17	3581	c.3317A>T	c.(3316-3318)tAc>tTc	p.Y1106F	SHPRH_ENST00000275233.7_Missense_Mutation_p.Y1106F|SHPRH_ENST00000367503.3_Missense_Mutation_p.Y1115F|SHPRH_ENST00000438092.2_Missense_Mutation_p.Y1115F			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1106					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTGCTCATGTAGTGCTCTCG	0.408																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(3343-3345)tAc>tTc		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							126.0	118.0	121.0					6																	146245960		1916	4125	6041	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146245960T>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3317A>T	6.37:g.146245960T>A	ENSP00000356475:p.Tyr1106Phe					SHPRH_ENST00000367505.2_Missense_Mutation_p.Y1106F|SHPRH_ENST00000275233.7_Missense_Mutation_p.Y1106F|SHPRH_ENST00000438092.2_Missense_Mutation_p.Y1115F	p.Y1115F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	17	3742	-		Ovarian(120;0.0365)	1106					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3344A>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	31	5.093102	0.94149	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	D;D;D;D	0.83591	-1.6;-1.74;-1.53;-1.6	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	D	0.88680	0.6502	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.998;0.99;0.996	D	0.87394	0.2365	10	0.31617	T	0.26	-18.5973	15.8509	0.78930	0.0:0.0:0.0:1.0	.	305;1106;1115	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	F	1106;1115;1115;1106	ENSP00000356475:Y1106F;ENSP00000356473:Y1115F;ENSP00000412797:Y1115F;ENSP00000275233:Y1106F	ENSP00000275233:Y1106F	Y	-	2	0	SHPRH	146287653	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	7.922000	0.87538	2.222000	0.72286	0.477000	0.44152	TAC		0.408	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		23	59	0	0	0	0.014323	0	23	59				
DFNB31	25861	broad.mit.edu	37	9	117266938	117266938	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:117266938C>T	ENST00000362057.3	-	1	312	c.144G>A	c.(142-144)gcG>gcA	p.A48A	DFNB31_ENST00000480518.1_5'Flank|DFNB31_ENST00000374057.3_Silent_p.A48A|DFNB31_ENST00000265134.6_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	48					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCTCAGCAGCGCGGTCAGCG	0.746																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(142-144)gcG>gcA		deafness, autosomal recessive 31							32.0	26.0	28.0					9																	117266938		2200	4297	6497	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117266938C>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.144G>A	9.37:g.117266938C>T						DFNB31_ENST00000374057.3_Silent_p.A48A	p.A48A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			1	312	-			48					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.144G>A	CCDS6806.1																																																																																				0.746	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		8	33	0	0	0	0.003080	0	8	33				
PLXNA1	5361	broad.mit.edu	37	3	126733043	126733043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:126733043C>T	ENST00000393409.2	+	11	2429	c.2429C>T	c.(2428-2430)cCg>cTg	p.P810L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.P787L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	810					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TACAAGTGCCCGGCCCTGCGC	0.736																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2359-2361)cCg>cTg		plexin A1							23.0	26.0	25.0					3																	126733043		2199	4292	6491	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126733043C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2429C>T	3.37:g.126733043C>T	ENSP00000377061:p.Pro810Leu					PLXNA1_ENST00000393409.2_Missense_Mutation_p.P810L	p.P787L			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	11	2429	+			810						Missense_Mutation	SNP	ENST00000393409.2	37	c.2360C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590288	0.28357	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.48201	0.82;0.82	2.86	2.86	0.33363	.	0.295493	0.29093	N	0.013172	T	0.34077	0.0885	N	0.22421	0.69	0.47308	D	0.999388	B	0.25235	0.121	B	0.29942	0.109	T	0.15867	-1.0422	10	0.25751	T	0.34	.	13.5801	0.61898	0.0:1.0:0.0:0.0	.	810	Q9UIW2	PLXA1_HUMAN	L	810;787	ENSP00000377061:P810L;ENSP00000251772:P787L	ENSP00000251772:P787L	P	+	2	0	PLXNA1	128215733	0.881000	0.30235	0.984000	0.44739	0.921000	0.55340	2.220000	0.42908	1.908000	0.55244	0.486000	0.48141	CCG		0.736	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	25	0	0	0	0.001168	0	6	25				
FBXW7	55294	broad.mit.edu	37	4	153332853	153332853	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:153332853G>A	ENST00000281708.4	-	2	1332	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FBXW7_ENST00000603841.1_Missense_Mutation_p.R35C|FBXW7_ENST00000604872.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R35C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	35					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTACCACACGATTCATCTGT	0.507			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		0				NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(103-105)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							214.0	186.0	195.0					4																	153332853		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153332853G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.103C>T	4.37:g.153332853G>A	ENSP00000281708:p.Arg35Cys					FBXW7_ENST00000604872.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R35C	p.R35C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			2	1332	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	35					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.103C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375820	0.61735	.	.	ENSG00000109670	ENST00000281708	T	0.60424	0.19	5.82	5.82	0.92795	.	0.421134	0.22050	N	0.065327	T	0.64360	0.2591	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.79108	0.992;0.454	T	0.66878	-0.5812	10	0.72032	D	0.01	-5.7879	14.8919	0.70614	0.0:0.0:0.8567:0.1433	.	35;35	G0Z2K0;Q969H0	.;FBXW7_HUMAN	C	35	ENSP00000281708:R35C	ENSP00000281708:R35C	R	-	1	0	FBXW7	153552303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.262000	0.58847	2.745000	0.94114	0.650000	0.86243	CGT		0.507	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			47	90	0	0	0	0.013114	0	47	90				
FREM1	158326	broad.mit.edu	37	9	14848678	14848678	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:14848678C>A	ENST00000380880.3	-	7	2029	c.1246G>T	c.(1246-1248)Gta>Tta	p.V416L	FREM1_ENST00000422223.2_Missense_Mutation_p.V416L|RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000380881.4_Missense_Mutation_p.V417L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	416					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCCAGGATACACGGGGGGCA	0.423																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1249-1251)Gta>Tta		FRAS1 related extracellular matrix 1							133.0	118.0	123.0					9																	14848678		1902	4128	6030	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14848678C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1246G>T	9.37:g.14848678C>A	ENSP00000370262:p.Val416Leu					FREM1_ENST00000380880.3_Missense_Mutation_p.V416L|FREM1_ENST00000422223.2_Missense_Mutation_p.V416L	p.V417L			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	8	2064	-			416					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1249G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553681	0.86231	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.14391	2.51;2.51;2.51	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	L	0.46567	1.45	0.58432	D	0.999998	D	0.65815	0.995	D	0.72338	0.977	T	0.00520	-1.1692	10	0.51188	T	0.08	-14.5823	19.8344	0.96650	0.0:1.0:0.0:0.0	.	416	Q5H8C1	FREM1_HUMAN	L	417;416;416	ENSP00000370263:V417L;ENSP00000412940:V416L;ENSP00000370262:V416L	ENSP00000370257:V419L	V	-	1	0	FREM1	14838678	1.000000	0.71417	0.654000	0.29608	0.718000	0.41266	7.487000	0.81328	2.692000	0.91855	0.655000	0.94253	GTA		0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		19	42	1	0	1.28384e-07	0.012319	1.3826e-07	19	42				
BFSP1	631	broad.mit.edu	37	20	17475534	17475534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:17475534C>G	ENST00000377873.3	-	8	1222	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q	BFSP1_ENST00000377868.2_Missense_Mutation_p.E270Q|BFSP1_ENST00000536626.1_Missense_Mutation_p.E256Q|BFSP1_ENST00000544874.1_Missense_Mutation_p.E256Q	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	395	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTGTGTCTTCCAAACCTTTT	0.413																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1183-1185)Gaa>Caa		beaded filament structural protein 1, filensin							144.0	143.0	143.0					20																	17475534		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475534C>G	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1183G>C	20.37:g.17475534C>G	ENSP00000367104:p.Glu395Gln					BFSP1_ENST00000544874.1_Missense_Mutation_p.E256Q|BFSP1_ENST00000377868.2_Missense_Mutation_p.E270Q|BFSP1_ENST00000536626.1_Missense_Mutation_p.E256Q	p.E395Q	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1222	-			395			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1183G>C	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010785	0.07727	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.87887	-2.31;1.4;1.4;1.4	4.94	2.74	0.32292	.	0.299034	0.35096	N	0.003441	T	0.78824	0.4344	L	0.32530	0.975	0.09310	N	1	B;B	0.27351	0.176;0.03	B;B	0.28849	0.095;0.012	T	0.65092	-0.6252	10	0.27082	T	0.32	-8.6384	9.8836	0.41249	0.1403:0.6597:0.2:0.0	.	270;395	Q12934-2;Q12934	.;BFSP1_HUMAN	Q	395;270;256;256	ENSP00000367104:E395Q;ENSP00000367099:E270Q;ENSP00000442522:E256Q;ENSP00000439870:E256Q	ENSP00000367099:E270Q	E	-	1	0	BFSP1	17423534	0.022000	0.18835	0.308000	0.25141	0.175000	0.22909	1.505000	0.35736	0.906000	0.36621	0.655000	0.94253	GAA		0.413	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		48	74	0	0	0	0.014410	0	48	74				
NEDD4	4734	broad.mit.edu	37	15	56207863	56207863	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:56207863G>A	ENST00000508342.1	-	1	1466	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	NEDD4_ENST00000506154.1_Silent_p.D389D|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.D389D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	389					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGTTTCACAGTCTAATGTAG	0.363																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1165-1167)gaC>gaT		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							54.0	52.0	53.0					15																	56207863		2193	4291	6484	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56207863G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1167C>T	15.37:g.56207863G>A						NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.D389D|NEDD4_ENST00000506154.1_Silent_p.D389D	p.D389D			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	1466	-			389					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.1167C>T																																																																																					0.363	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		17	38	0	0	0	0.004007	0	17	38				
SPTBN2	6712	broad.mit.edu	37	11	66488701	66488701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:66488701G>A	ENST00000533211.1	-	3	342	c.11C>T	c.(10-12)aCg>aTg	p.T4M	SPTBN2_ENST00000529997.1_Missense_Mutation_p.T4M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T4M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	4	Actin-binding.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGTGACAGCGTGCTGCTCAT	0.602																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(10-12)aCg>aTg		spectrin, beta, non-erythrocytic 2							195.0	154.0	168.0					11																	66488701		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66488701G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.11C>T	11.37:g.66488701G>A	ENSP00000432568:p.Thr4Met					SPTBN2_ENST00000529997.1_Missense_Mutation_p.T4M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T4M	p.T4M			O15020	SPTN2_HUMAN			3	342	-			4			Actin-binding.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.11C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088683	0.76756	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262;ENST00000527010	T;T;T;T	0.77620	-0.57;-0.57;-0.59;-1.11	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	N	0.00347	-1.61	0.48185	D	0.999601	P	0.42078	0.77	B	0.24394	0.053	T	0.56860	-0.7909	10	0.22109	T	0.4	.	14.6826	0.69028	0.0:0.0:1.0:0.0	.	4	O15020	SPTN2_HUMAN	M	4	ENSP00000432568:T4M;ENSP00000311489:T4M;ENSP00000433593:T4M;ENSP00000433631:T4M	ENSP00000311489:T4M	T	-	2	0	SPTBN2	66245277	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.286000	0.58995	2.278000	0.76064	0.561000	0.74099	ACG		0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		20	125	0	0	0	0.010504	0	20	125				
SLC2A3	6515	broad.mit.edu	37	12	8082459	8082459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:8082459G>A	ENST00000075120.7	-	6	922	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	228					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCCCACAACCGCTGGAGGACT	0.498																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(682-684)Cgg>Tgg		solute carrier family 2 (facilitated glucose transporter), member 3							89.0	89.0	89.0					12																	8082459		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8082459G>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.682C>T	12.37:g.8082459G>A	ENSP00000075120:p.Arg228Trp						p.R228W	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	6	922	-			228					B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.682C>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	9.142	1.014143	0.19277	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.76448	-1.02	4.34	-1.51	0.08664	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.432149	0.23492	N	0.047591	T	0.64349	0.2590	L	0.40543	1.245	0.42564	D	0.993155	B	0.23128	0.08	B	0.27170	0.077	T	0.49908	-0.8889	10	0.35671	T	0.21	.	7.7012	0.28623	0.0892:0.0:0.2567:0.6542	.	228	P11169	GTR3_HUMAN	W	228;154	ENSP00000075120:R228W	ENSP00000075120:R228W	R	-	1	2	SLC2A3	7973726	0.042000	0.20092	0.015000	0.15790	0.885000	0.51271	1.144000	0.31565	-0.070000	0.12908	0.407000	0.27541	CGG		0.498	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		12	89	0	0	0	0.006122	0	12	89				
PYGM	5837	broad.mit.edu	37	11	64525340	64525340	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:64525340C>G	ENST00000164139.3	-	5	969	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	PYGM_ENST00000377432.3_Missense_Mutation_p.E103Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	191					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGGCCTTCTCCCAGGGGTTG	0.607																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(571-573)Gag>Cag		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						72.0	63.0	66.0					11																	64525340		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64525340C>G		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.571G>C	11.37:g.64525340C>G	ENSP00000164139:p.Glu191Gln					PYGM_ENST00000377432.3_Missense_Mutation_p.E103Q	p.E191Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			5	969	-			191					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.571G>C	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385695	0.95967	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94376	-3.41;-3.41	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000011	D	0.97228	0.9094	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.97718	1.0195	10	0.87932	D	0	-39.374	17.3277	0.87253	0.0:1.0:0.0:0.0	.	103;191	A6NDY6;P11217	.;PYGM_HUMAN	Q	103;191;172	ENSP00000366650:E103Q;ENSP00000164139:E191Q	ENSP00000164139:E191Q	E	-	1	0	PYGM	64281916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.700000	0.92200	0.563000	0.77884	GAG		0.607	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		18	25	0	0	0	0.010504	0	18	25				
PCDHB3	56132	broad.mit.edu	37	5	140482313	140482313	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:140482313T>C	ENST00000231130.2	+	1	2080	c.2080T>C	c.(2080-2082)Ttg>Ctg	p.L694L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	694					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCATTGGCCTCGGT	0.687																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2080-2082)Ttg>Ctg									92.0	93.0	93.0					5																	140482313		2198	4287	6485	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482313T>C	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2080T>C	5.37:g.140482313T>C							p.L694L	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2080	+			694					B2R8P2	Silent	SNP	ENST00000231130.2	37	c.2080T>C	CCDS4245.1																																																																																				0.687	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		10	67	0	0	0	0.010504	0	10	67				
STXBP2	6813	broad.mit.edu	37	19	7708073	7708073	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:7708073C>G	ENST00000221283.5	+	13	1080	c.1049C>G	c.(1048-1050)gCa>gGa	p.A350G	STXBP2_ENST00000414284.2_Missense_Mutation_p.A347G|STXBP2_ENST00000441779.2_Missense_Mutation_p.A361G|STXBP2_ENST00000602355.1_5'Flank	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	350					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCATCTAGCAGATGATTGT	0.587																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1081-1083)gCa>gGa		syntaxin binding protein 2							91.0	74.0	80.0					19																	7708073		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7708073C>G	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1049C>G	19.37:g.7708073C>G	ENSP00000221283:p.Ala350Gly					STXBP2_ENST00000221283.5_Missense_Mutation_p.A350G|STXBP2_ENST00000414284.2_Missense_Mutation_p.A347G	p.A361G	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			13	1119	+			350					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1082C>G	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880317	0.51801	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.80653	-1.4;-1.4;-1.4	5.22	4.17	0.49024	.	0.123968	0.52532	D	0.000068	D	0.90686	0.7078	M	0.92026	3.265	0.80722	D	1	D;P;D;D	0.89917	1.0;0.956;1.0;1.0	D;D;D;D	0.87578	0.998;0.958;0.996;0.998	D	0.92037	0.5638	10	0.87932	D	0	-10.264	11.9174	0.52774	0.0:0.9127:0.0:0.0873	.	361;316;347;350	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	G	350;347;361;350	ENSP00000221283:A350G;ENSP00000409471:A347G;ENSP00000413606:A361G	ENSP00000221283:A350G	A	+	2	0	STXBP2	7614073	1.000000	0.71417	0.076000	0.20297	0.003000	0.03518	7.608000	0.82898	2.443000	0.82685	0.491000	0.48974	GCA		0.587	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		9	37	0	0	0	0.006214	0	9	37				
CNTN2	6900	broad.mit.edu	37	1	205039107	205039107	+	Silent	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:205039107C>A	ENST00000331830.4	+	18	2633	c.2349C>A	c.(2347-2349)ccC>ccA	p.P783P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	783	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCTACACGCCCTTTGAGGTCA	0.667																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2347-2349)ccC>ccA		contactin 2 (axonal)							47.0	53.0	51.0					1																	205039107		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205039107C>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2349C>A	1.37:g.205039107C>A							p.P783P	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2633	+	all_cancers(21;0.144)|Breast(84;0.0437)		783			Fibronectin type-III 2.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2349C>A	CCDS1449.1																																																																																				0.667	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		21	82	1	0	1.50039e-11	0.012319	1.63149e-11	21	82				
SPIB	6689	broad.mit.edu	37	19	50925756	50925756	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:50925756G>A	ENST00000595883.1	+	3	103	c.78G>A	c.(76-78)ctG>ctA	p.L26L	SPIB_ENST00000270632.7_Silent_p.L26L|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G161R|SPIB_ENST00000439922.2_Nonsense_Mutation_p.W7*|SPIB_ENST00000597855.1_Silent_p.L26L|SPIB_ENST00000596074.1_Silent_p.L26L	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	26	TAD1 (Acidic).				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCTATGACCTGGACAGCTGCA	0.612																																						ENST00000439922.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(19-21)tGg>tAg		Spi-B transcription factor (Spi-1/PU.1 related)							57.0	50.0	52.0					19																	50925756		2203	4300	6503	SO:0001819	synonymous_variant	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50925756G>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.78G>A	19.37:g.50925756G>A						SPIB_ENST00000596074.1_Silent_p.L26L|SPIB_ENST00000595883.1_Silent_p.L26L|SPIB_ENST00000270632.7_Silent_p.L26L|SPIB_ENST00000597855.1_Silent_p.L26L	p.W7*	NM_001243998.1	NP_001230927.1	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	3	100	+		all_neural(266;0.131)	0			TAD1 (Acidic).		A8K9C9|B4DUG6|Q15359	Nonsense_Mutation	SNP	ENST00000595883.1	37	c.20G>A	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521152	0.96416	.	.	ENSG00000142539	ENST00000439922	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	12.7358	14.7444	0.69480	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	ENSP00000391877:W7X	W	+	2	0	SPIB	55617568	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.289000	0.43523	2.409000	0.81822	0.591000	0.81541	TGG		0.612	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		16	21	0	0	0	0.006122	0	16	21				
ZNF615	284370	broad.mit.edu	37	19	52497522	52497522	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:52497522G>A	ENST00000602063.1	-	6	1156	c.807C>T	c.(805-807)ttC>ttT	p.F269F	ZNF615_ENST00000598071.1_Silent_p.F280F|ZNF615_ENST00000391795.3_Silent_p.F274F|ZNF615_ENST00000376716.5_Silent_p.F269F|ZNF615_ENST00000594083.1_Silent_p.F280F			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	269					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATTTCTTGAGGAAGGTTTTGT	0.413																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(805-807)ttC>ttT		zinc finger protein 615							168.0	153.0	158.0					19																	52497522		2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497522G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.807C>T	19.37:g.52497522G>A						ZNF615_ENST00000598071.1_Silent_p.F280F|ZNF615_ENST00000594083.1_Silent_p.F280F|ZNF615_ENST00000391795.3_Silent_p.F274F|ZNF615_ENST00000376716.5_Silent_p.F269F	p.F269F			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1156	-		all_neural(266;0.117)	269					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.807C>T	CCDS12846.1																																																																																				0.413	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		24	220	0	0	0	0.014323	0	24	220				
IQCG	84223	broad.mit.edu	37	3	197670906	197670906	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:197670906A>G	ENST00000265239.6	-	4	449	c.25T>C	c.(25-27)Tca>Cca	p.S9P	IQCG_ENST00000455191.1_Missense_Mutation_p.S9P|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Missense_Mutation_p.S9P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	9						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GGAAGGTTTGAGTCTTCCAGG	0.408																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(25-27)Tca>Cca		IQ motif containing G							116.0	121.0	119.0					3																	197670906		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197670906A>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.25T>C	3.37:g.197670906A>G	ENSP00000265239:p.Ser9Pro					IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.S9P|IQCG_ENST00000453254.1_Missense_Mutation_p.S9P	p.S9P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	4	449	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		9					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.25T>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518726	0.27211	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000452735	T;T;T	0.52057	0.68;0.68;0.69	3.6	-2.18	0.07037	.	2.050120	0.02410	N	0.081573	T	0.60366	0.2263	M	0.68317	2.08	0.09310	N	1	D;D	0.71674	0.998;0.99	D;P	0.69142	0.962;0.676	T	0.50171	-0.8859	10	0.72032	D	0.01	2.8335	1.2296	0.01941	0.3425:0.3611:0.1202:0.1762	.	9;9	C9JKX8;Q9H095	.;IQCG_HUMAN	P	9	ENSP00000265239:S9P;ENSP00000407736:S9P;ENSP00000389897:S9P	ENSP00000265239:S9P	S	-	1	0	IQCG	199155303	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.084000	0.11268	-0.365000	0.08076	0.451000	0.29950	TCA		0.408	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		3	161	0	0	0	0.004672	0	3	161				
AGPAT1	10554	broad.mit.edu	37	6	32137994	32137994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:32137994C>G	ENST00000395499.1	-	5	1133	c.554G>C	c.(553-555)gGc>gCc	p.G185A	AGPAT1_ENST00000375104.2_Missense_Mutation_p.G185A|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000395496.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G73A|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G185A|PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G185A			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	185					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CAGCATGGAGCCATTGTGGTT	0.537																																						ENST00000395499.1																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(553-555)gGc>gCc		1-acylglycerol-3-phosphate O-acyltransferase 1							73.0	70.0	71.0					6																	32137994		2203	4300	6503	SO:0001583	missense	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32137994C>G	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.554G>C	6.37:g.32137994C>G	ENSP00000378877:p.Gly185Ala					AGPAT1_ENST00000395496.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G185A|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G73A|PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000375104.2_Missense_Mutation_p.G185A|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G185A|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G185A	p.G185A			Q99943	PLCA_HUMAN			5	1133	-			185					A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	37	c.554G>C	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926013	0.92319	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984;ENST00000412465	D;D;D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53	5.92	5.92	0.95590	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.103168	0.64402	D	0.000003	D	0.96500	0.8858	M	0.90198	3.095	0.80722	D	1	D;P;D	0.56746	0.974;0.952;0.977	P;P;P	0.62184	0.837;0.758;0.899	D	0.95587	0.8651	10	0.09843	T	0.71	-15.6909	17.8263	0.88666	0.0:1.0:0.0:0.0	.	149;75;185	B4DRH1;B3KPH3;Q99943	.;.;PLCA_HUMAN	A	185;185;185;185;185;185;73	ENSP00000378874:G185A;ENSP00000364248:G185A;ENSP00000378877:G185A;ENSP00000364245:G185A;ENSP00000378875:G185A;ENSP00000337463:G185A;ENSP00000410473:G73A	ENSP00000337463:G185A	G	-	2	0	AGPAT1	32245972	0.813000	0.29090	1.000000	0.80357	0.969000	0.65631	3.037000	0.49775	2.805000	0.96524	0.655000	0.94253	GGC		0.537	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		7	12	0	0	0	0.001984	0	7	12				
YME1L1	10730	broad.mit.edu	37	10	27423860	27423860	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:27423860G>A	ENST00000326799.3	-	7	910	c.762C>T	c.(760-762)ctC>ctT	p.L254L	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Silent_p.L164L|YME1L1_ENST00000376016.3_Silent_p.L197L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	254					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGTTTTCATGAGTTTGTCCA	0.393																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(760-762)ctC>ctT		YME1-like 1 ATPase							109.0	103.0	105.0					10																	27423860		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27423860G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.762C>T	10.37:g.27423860G>A						YME1L1_ENST00000375972.3_Silent_p.L164L|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Silent_p.L197L	p.L254L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			7	910	-			254					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.762C>T	CCDS7152.1																																																																																				0.393	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		14	37	0	0	0	0.016723	0	14	37				
KDM7A	80853	broad.mit.edu	37	7	139796488	139796488	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:139796488G>A	ENST00000397560.2	-	17	2338	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	JHDM1D_ENST00000006967.5_Silent_p.S747S|Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		747					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTAAACACGTGGAATAGTGCA	0.483																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(2239-2241)tcC>tcT									134.0	131.0	132.0					7																	139796488		1980	4163	6143	SO:0001819	synonymous_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139796488G>A																												ENST00000397560.2:c.2241C>T	7.37:g.139796488G>A						JHDM1D_ENST00000006967.5_Silent_p.S747S	p.S747S	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			17	2338	-	Melanoma(164;0.0142)		747					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Silent	SNP	ENST00000397560.2	37	c.2241C>T	CCDS43658.1																																																																																				0.483	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			23	64	0	0	0	0.018920	0	23	64				
PARP14	54625	broad.mit.edu	37	3	122420364	122420364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:122420364C>T	ENST00000474629.2	+	6	3229	c.2963C>T	c.(2962-2964)cCg>cTg	p.P988L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	988					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACAGCTGCCCCGCCAGGTTTA	0.522																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(2962-2964)cCg>cTg		poly (ADP-ribose) polymerase family, member 14							30.0	31.0	31.0					3																	122420364		1922	4136	6058	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122420364C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2963C>T	3.37:g.122420364C>T	ENSP00000418194:p.Pro988Leu						p.P988L	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	3229	+			988					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.2963C>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	8.027	0.760897	0.15914	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.10382	2.88	5.14	-10.3	0.00346	.	3.763150	0.00550	N	0.000258	T	0.03220	0.0094	N	0.03177	-0.4	0.09310	N	0.999993	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.001	T	0.35101	-0.9802	10	0.20519	T	0.43	.	1.9535	0.03371	0.2784:0.3632:0.1888:0.1696	.	988;988	Q460N5-4;Q460N5	.;PAR14_HUMAN	L	988;907	ENSP00000418194:P988L	ENSP00000381228:P907L	P	+	2	0	PARP14	123903054	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.751000	0.00792	-2.773000	0.00364	-2.108000	0.00357	CCG		0.522	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		4	17	0	0	0	0.014758	0	4	17				
CMTR1	23070	broad.mit.edu	37	6	37411845	37411845	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:37411845C>T	ENST00000373451.4	+	3	368	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	68					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										ACTCTTTTGACGATGCATTCA	0.433																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(202-204)gaC>gaT									177.0	160.0	166.0					6																	37411845		2203	4300	6503	SO:0001819	synonymous_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37411845C>T	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.204C>T	6.37:g.37411845C>T							p.D68D	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			3	368	+			68					A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.204C>T	CCDS4835.1																																																																																				0.433	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		40	52	0	0	0	0.007835	0	40	52				
OR10R2	343406	broad.mit.edu	37	1	158450344	158450344	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:158450344T>C	ENST00000368152.1	+	1	677	c.677T>C	c.(676-678)gTa>gCa	p.V226A	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGAGTTCTTGTACTTGTGGTT	0.413																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(676-678)gTa>gCa		olfactory receptor, family 10, subfamily R, member 2							150.0	136.0	140.0					1																	158450344		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450344T>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.677T>C	1.37:g.158450344T>C	ENSP00000357134:p.Val226Ala					RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.V226A	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	677	+	all_hematologic(112;0.0378)		226					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.677T>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	11.01	1.513163	0.27123	.	.	ENSG00000198965	ENST00000368152	T	0.00152	8.66	4.48	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	L	0.35414	1.06	0.09310	N	1	B	0.31581	0.329	B	0.36766	0.232	T	0.00783	-1.1568	9	0.45353	T	0.12	.	6.2663	0.20928	0.0:0.0872:0.1606:0.7522	.	226	Q8NGX6	O10R2_HUMAN	A	226	ENSP00000357134:V226A	ENSP00000357134:V226A	V	+	2	0	OR10R2	156716968	0.000000	0.05858	0.113000	0.21522	0.997000	0.91878	0.139000	0.16036	0.214000	0.20742	0.533000	0.62120	GTA		0.413	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		26	87	0	0	0	0.008361	0	26	87				
SUN5	140732	broad.mit.edu	37	20	31590695	31590695	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:31590695C>T	ENST00000356173.3	-	2	200	c.108G>A	c.(106-108)agG>agA	p.R36R	SUN5_ENST00000375523.3_Silent_p.R36R|SUN5_ENST00000375519.2_Silent_p.R36R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	36					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCTCTGCCATCCTGCTGGTGT	0.527																																						ENST00000356173.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(106-108)agG>agA		Sad1 and UNC84 domain containing 5							128.0	118.0	121.0					20																	31590695		2203	4300	6503	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31590695C>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.108G>A	20.37:g.31590695C>T						SUN5_ENST00000375523.3_Silent_p.R36R|SUN5_ENST00000375519.2_Silent_p.R36R	p.R36R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN			2	200	-			36					A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.108G>A	CCDS13209.1																																																																																				0.527	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		19	49	0	0	0	0.010504	0	19	49				
SENP1	29843	broad.mit.edu	37	12	48477537	48477537	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:48477537G>C	ENST00000004980.5	-	6	867	c.389C>G	c.(388-390)tCa>tGa	p.S130*	SENP1_ENST00000448372.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Nonsense_Mutation_p.S130*|RNU6-1203P_ENST00000410703.1_RNA			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	130	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAAACTGTTTGATAATCCACT	0.313																																						ENST00000004980.5																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(388-390)tCa>tGa		SUMO1/sentrin specific peptidase 1							86.0	82.0	83.0					12																	48477537		1820	4081	5901	SO:0001587	stop_gained	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48477537G>C	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.389C>G	12.37:g.48477537G>C	ENSP00000004980:p.Ser130*					SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.S130*	p.S130*			Q9P0U3	SENP1_HUMAN			6	867	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	130			Ser-rich.		A8K7P5|Q86XC8	Nonsense_Mutation	SNP	ENST00000004980.5	37	c.389C>G	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157197	0.38119	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518;ENST00000551798	.	.	.	4.67	3.78	0.43462	.	0.244492	0.28748	N	0.014275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.3998	9.2683	0.37654	0.1661:0.0:0.8339:0.0	.	.	.	.	X	130;130;130;130;130;123	.	ENSP00000004980:S130X	S	-	2	0	SENP1	46763804	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.291000	0.51764	1.354000	0.45846	-0.136000	0.14681	TCA		0.313	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		10	37	0	0	0	0.010729	0	10	37				
CD19	930	broad.mit.edu	37	16	28948971	28948971	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:28948971G>A	ENST00000324662.3	+	11	1443	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CD19_ENST00000567541.1_Missense_Mutation_p.E467K|CD19_ENST00000538922.1_Missense_Mutation_p.E467K			P15391	CD19_HUMAN	CD19 molecule	467					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CGAGGATGAAGAGCTGACCCA	0.567																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(1399-1401)Gag>Aag		CD19 molecule							73.0	75.0	75.0					16																	28948971		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948971G>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1399G>A	16.37:g.28948971G>A	ENSP00000313419:p.Glu467Lys					CD19_ENST00000324662.3_Missense_Mutation_p.E467K|CD19_ENST00000567541.1_Missense_Mutation_p.E467K	p.E467K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			11	1461	+			467					A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.1399G>A	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556156	0.86231	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.54279	0.58;0.58	4.48	4.48	0.54585	.	0.000000	0.45361	D	0.000362	T	0.59197	0.2176	L	0.29908	0.895	0.36497	D	0.868809	D;D	0.64830	0.994;0.99	D;D	0.68621	0.959;0.912	T	0.68746	-0.5327	10	0.87932	D	0	-9.8008	13.0284	0.58829	0.0:0.0:1.0:0.0	.	467;467	F5H635;P15391	.;CD19_HUMAN	K	467;274;467;316	ENSP00000437940:E467K;ENSP00000313419:E467K	ENSP00000313419:E467K	E	+	1	0	CD19	28856472	0.998000	0.40836	1.000000	0.80357	0.959000	0.62525	4.321000	0.59209	2.208000	0.71279	0.462000	0.41574	GAG		0.567	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			19	35	0	0	0	0.006122	0	19	35				
NIPBL	25836	broad.mit.edu	37	5	37048678	37048678	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:37048678G>C	ENST00000282516.8	+	39	7163	c.6664G>C	c.(6664-6666)Gat>Cat	p.D2222H	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2222H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2222					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TATTTTATCTGATAAGAACTC	0.363																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6664-6666)Gat>Cat		Nipped-B homolog (Drosophila)							38.0	44.0	42.0					5																	37048678		2184	4285	6469	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37048678G>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6664G>C	5.37:g.37048678G>C	ENSP00000282516:p.Asp2222His					NIPBL_ENST00000448238.2_Missense_Mutation_p.D2222H	p.D2222H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		39	7163	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2222					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6664G>C	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172493	0.78452	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93763	-3.28;-3.28	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.044331	0.85682	D	0.000000	D	0.95752	0.8618	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.989;0.996	P;D	0.64877	0.854;0.93	D	0.94955	0.8103	10	0.52906	T	0.07	-16.5631	20.6397	0.99537	0.0:0.0:1.0:0.0	.	2222;2222	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	2222	ENSP00000282516:D2222H;ENSP00000406266:D2222H	ENSP00000282516:D2222H	D	+	1	0	NIPBL	37084435	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.439000	0.97543	2.880000	0.98712	0.650000	0.86243	GAT		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		13	37	0	0	0	0.016723	0	13	37				
KCTD13	253980	broad.mit.edu	37	16	29918300	29918300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:29918300C>T	ENST00000568000.1	-	6	1884	c.883G>A	c.(883-885)Ggg>Agg	p.G295R		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	295					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						TCATCCTCCCCGCGGCCAGCC	0.637																																						ENST00000568000.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(883-885)Ggg>Agg		potassium channel tetramerization domain containing 13							81.0	79.0	79.0					16																	29918300		2197	4300	6497	SO:0001583	missense	253980				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr16:29918300C>T	AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.883G>A	16.37:g.29918300C>T	ENSP00000455785:p.Gly295Arg						p.G295R	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN			6	1884	-			295					A8K0R5|Q96P93|Q96SA1	Missense_Mutation	SNP	ENST00000568000.1	37	c.883G>A	CCDS10661.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947328	0.53186	.	.	ENSG00000174943	ENST00000308768	T	0.50548	0.74	4.46	4.46	0.54185	.	0.152498	0.31335	N	0.007833	T	0.36717	0.0977	N	0.14661	0.345	0.80722	D	1	D	0.67145	0.996	P	0.49597	0.616	T	0.21861	-1.0233	10	0.52906	T	0.07	-1.1233	9.7777	0.40630	0.0:0.9035:0.0:0.0965	.	295	Q8WZ19	BACD1_HUMAN	R	295	ENSP00000311202:G295R	ENSP00000311202:G295R	G	-	1	0	KCTD13	29825801	0.000000	0.05858	1.000000	0.80357	0.436000	0.31835	0.446000	0.21694	2.310000	0.77875	0.460000	0.39030	GGG		0.637	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2	NM_178863		33	80	0	0	0	0.015359	0	33	80				
ASTE1	28990	broad.mit.edu	37	3	130744130	130744130	+	Missense_Mutation	SNP	C	C	G	rs139512239		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:130744130C>G	ENST00000264992.3	-	3	462	c.21G>C	c.(19-21)atG>atC	p.M7I	NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000511262.1_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.M7I|NEK11_ENST00000429253.2_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	7					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CCACAAAACTCATTAGTCCTC	0.378																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(19-21)atG>atC		asteroid homolog 1 (Drosophila)							88.0	91.0	90.0					3																	130744130		2202	4289	6491	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130744130C>G	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.21G>C	3.37:g.130744130C>G	ENSP00000264992:p.Met7Ile					ASTE1_ENST00000514044.1_Missense_Mutation_p.M7I	p.M7I	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	462	-			7					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.21G>C	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296642	0.60086	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270;ENST00000505545;ENST00000504725;ENST00000509060	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.44	4.56	0.56223	XPG N-terminal (1);	0.084420	0.85682	D	0.000000	T	0.41903	0.1179	L	0.28274	0.84	0.34207	D	0.673819	P;P	0.44521	0.837;0.837	P;P	0.45195	0.473;0.473	T	0.51741	-0.8667	10	0.28530	T	0.3	-31.7547	10.833	0.46671	0.0:0.7961:0.1302:0.0737	.	7;7	D6RG30;Q2TB18	.;ASTE1_HUMAN	I	7	ENSP00000426421:M7I;ENSP00000264992:M7I;ENSP00000425683:M7I;ENSP00000422851:M7I	ENSP00000264992:M7I	M	-	3	0	ASTE1	132226820	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.703000	0.25646	2.551000	0.86045	0.650000	0.86243	ATG		0.378	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		22	57	0	0	0	0.018920	0	22	57				
DGKQ	1609	broad.mit.edu	37	4	959304	959304	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:959304G>A	ENST00000273814.3	-	14	1666	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	531					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTGACTCACGGACACCACGG	0.667																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1591-1593)tcC>tcT		diacylglycerol kinase, theta 110kDa							62.0	52.0	55.0					4																	959304		2199	4299	6498	SO:0001819	synonymous_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:959304G>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1593C>T	4.37:g.959304G>A						DGKQ_ENST00000502309.1_5'UTR	p.S531S	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		14	1666	-			531					Q6P3W4	Silent	SNP	ENST00000273814.3	37	c.1593C>T	CCDS3342.1																																																																																				0.667	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			5	18	0	0	0	0.014758	0	5	18				
CACNA1D	776	broad.mit.edu	37	3	53757958	53757958	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:53757958T>A	ENST00000350061.5	+	14	2543	c.2032T>A	c.(2032-2034)Ttt>Att	p.F678I	CACNA1D_ENST00000288139.4_Missense_Mutation_p.F698I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.F678I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	678					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAGTTTAATTTTGATGAAAC	0.463																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2092-2094)Ttt>Att		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						136.0	126.0	129.0					3																	53757958		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757958T>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2032T>A	3.37:g.53757958T>A	ENSP00000288133:p.Phe678Ile					CACNA1D_ENST00000422281.2_Missense_Mutation_p.F678I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.F678I	p.F698I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2210	+			678					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2092T>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	33	5.255831	0.95336	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;0.997;1.0	D;D;D;D	0.81914	0.995;0.942;0.976;0.991	D	0.99793	1.1032	10	0.87932	D	0	.	16.4416	0.83903	0.0:0.0:0.0:1.0	.	678;371;678;698	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	I	678;698;678;371	ENSP00000288133:F678I;ENSP00000288139:F698I;ENSP00000409174:F678I;ENSP00000418014:F371I	ENSP00000288139:F698I	F	+	1	0	CACNA1D	53732998	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	8.040000	0.89188	2.285000	0.76669	0.477000	0.44152	TTT		0.463	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		15	39	0	0	0	0.002450	0	15	39				
KIF1B	23095	broad.mit.edu	37	1	10384836	10384836	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:10384836G>A	ENST00000377086.1	+	26	2760	c.2558G>A	c.(2557-2559)cGa>cAa	p.R853Q	KIF1B_ENST00000263934.6_Missense_Mutation_p.R807Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.R853Q			O60333	KIF1B_HUMAN	kinesin family member 1B	853					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATTTGATGCGAGAGATGTAT	0.463																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2557-2559)cGa>cAa		kinesin family member 1B							157.0	152.0	154.0					1																	10384836		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10384836G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2558G>A	1.37:g.10384836G>A	ENSP00000366290:p.Arg853Gln					KIF1B_ENST00000263934.6_Missense_Mutation_p.R807Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.R853Q	p.R853Q			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	26	2760	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	853					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2558G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.936636	0.97122	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	D;D;D	0.85339	-1.97;-1.97;-1.97	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.996	D;D;D;D;D;P	0.91635	0.999;0.992;0.99;0.997;0.99;0.748	D	0.92143	0.5722	10	0.72032	D	0.01	.	19.4313	0.94768	0.0:0.0:1.0:0.0	.	839;813;853;827;853;807	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	Q	853;807;853;853	ENSP00000263934:R807Q;ENSP00000366290:R853Q;ENSP00000366284:R853Q	ENSP00000263934:R807Q	R	+	2	0	KIF1B	10307423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.012000	0.88631	2.688000	0.91661	0.650000	0.86243	CGA		0.463	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			20	53	0	0	0	0.012319	0	20	53				
EP300	2033	broad.mit.edu	37	22	41573028	41573028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:41573028C>A	ENST00000263253.7	+	31	6532	c.5313C>A	c.(5311-5313)tgC>tgA	p.C1771*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1771	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAGGGTTGCAAACGGAAAA	0.567			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5311-5313)tgC>tgA		E1A binding protein p300							80.0	69.0	73.0					22																	41573028		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573028C>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5313C>A	22.37:g.41573028C>A	ENSP00000263253:p.Cys1771*					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.C1771*	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	6532	+			1771			Binding region for E1A adenovirus.		B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.5313C>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	52	19.784586	0.99923	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.75	5.75	0.90469	.	0.000000	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0783	19.9469	0.97185	0.0:1.0:0.0:0.0	.	.	.	.	X	1771	.	ENSP00000263253:C1771X	C	+	3	2	EP300	39902974	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.926000	0.63433	2.714000	0.92807	0.650000	0.86243	TGC		0.567	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		9	38	1	0	3.86212e-05	0.008291	4.10656e-05	9	38				
CASP8	841	broad.mit.edu	37	2	202149644	202149644	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:202149644A>T	ENST00000432109.2	+	9	1097	c.908A>T	c.(907-909)gAc>gTc	p.D303V	CASP8_ENST00000323492.7_Missense_Mutation_p.D288V|CASP8_ENST00000264274.9_Missense_Mutation_p.D219V|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.D320V|CASP8_ENST00000358485.4_Missense_Mutation_p.D362V	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	303					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAACTCATGGACCACAGTAAC	0.473										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1084-1086)gAc>gTc		caspase 8, apoptosis-related cysteine peptidase							168.0	145.0	153.0					2																	202149644		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149644A>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.908A>T	2.37:g.202149644A>T	ENSP00000412523:p.Asp303Val	HNSCC(4;0.00038)				CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.D288V|CASP8_ENST00000432109.2_Missense_Mutation_p.D303V|CASP8_ENST00000264274.9_Missense_Mutation_p.D219V|CASP8_ENST00000264275.5_Missense_Mutation_p.D320V	p.D362V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1281	+			303					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1085A>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685684	0.88639	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.68	4.48	0.54585	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.253869	0.45606	D	0.000360	T	0.82153	0.4975	M	0.93106	3.38	0.80722	D	1	D;P;P;D;P	0.76494	0.999;0.748;0.915;0.968;0.748	D;P;P;P;P	0.71414	0.973;0.447;0.804;0.859;0.447	D	0.86486	0.1794	10	0.87932	D	0	.	12.9753	0.58534	0.8655:0.1345:0.0:0.0	.	219;362;303;288;320	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	V	288;219;303;320;362;288;82	ENSP00000376091:D288V;ENSP00000264274:D219V;ENSP00000412523:D303V;ENSP00000264275:D320V;ENSP00000351273:D362V;ENSP00000325722:D288V;ENSP00000394434:D82V	ENSP00000264274:D219V	D	+	2	0	CASP8	201857889	1.000000	0.71417	0.930000	0.37139	0.494000	0.33585	4.822000	0.62686	2.170000	0.68504	0.459000	0.35465	GAC		0.473	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		81	83	0	0	0	0.014410	0	81	83				
FAM46B	115572	broad.mit.edu	37	1	27332876	27332876	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:27332876G>A	ENST00000289166.5	-	2	1002	c.837C>T	c.(835-837)ctC>ctT	p.L279L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	279										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGTACTTGAGGAGGCCACCAC	0.677																																						ENST00000289166.5																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(835-837)ctC>ctT		family with sequence similarity 46, member B							21.0	23.0	22.0					1																	27332876		2202	4296	6498	SO:0001819	synonymous_variant	115572							g.chr1:27332876G>A	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.837C>T	1.37:g.27332876G>A							p.L279L	NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	1002	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	279						Silent	SNP	ENST00000289166.5	37	c.837C>T	CCDS294.2																																																																																				0.677	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		9	18	0	0	0	0.008291	0	9	18				
CYP2W1	54905	broad.mit.edu	37	7	1026752	1026752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:1026752C>T	ENST00000308919.7	+	6	842	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	CYP2W1_ENST00000340150.6_Missense_Mutation_p.P221S	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	277					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGGATGACCCCGAGGGCCT	0.692																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(661-663)Ccc>Tcc		cytochrome P450, family 2, subfamily W, polypeptide 1							15.0	16.0	16.0					7																	1026752		2180	4277	6457	SO:0001583	missense	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1026752C>T	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.829C>T	7.37:g.1026752C>T	ENSP00000310149:p.Pro277Ser					CYP2W1_ENST00000308919.7_Missense_Mutation_p.P277S	p.P221S			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	6	683	+		Ovarian(82;0.0112)	277						Missense_Mutation	SNP	ENST00000308919.7	37	c.661C>T	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338892	0.24253	.	.	ENSG00000073067	ENST00000308919;ENST00000340150;ENST00000415893	T;T;T	0.68181	-0.31;-0.31;-0.31	4.32	2.31	0.28768	.	1.006700	0.07981	N	0.985657	T	0.50497	0.1619	L	0.31207	0.915	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.17098	0.017;0.017	T	0.35425	-0.9789	10	0.21014	T	0.42	.	5.1438	0.14973	0.3739:0.5179:0.0:0.1082	.	221;277	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	S	277;221;51	ENSP00000310149:P277S;ENSP00000344178:P221S;ENSP00000392581:P51S	ENSP00000310149:P277S	P	+	1	0	CYP2W1	993278	0.002000	0.14202	0.412000	0.26496	0.147000	0.21601	1.168000	0.31859	1.132000	0.42129	0.561000	0.74099	CCC		0.692	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		5	7	0	0	0	0.001168	0	5	7				
ZNF630	57232	broad.mit.edu	37	X	47918145	47918145	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:47918145C>G	ENST00000409324.3	-	5	1912	c.1686G>C	c.(1684-1686)caG>caC	p.Q562H	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.Q548H|ZNF630_ENST00000276054.4_Missense_Mutation_p.Q438H	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	562					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)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TATGACCTCTCTGATGTAGAA	0.448																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(1312-1314)caG>caC		zinc finger protein 630							55.0	48.0	50.0					X																	47918145		2192	4287	6479	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918145C>G	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1686G>C	X.37:g.47918145C>G	ENSP00000386393:p.Gln562His					ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.Q562H|ZNF630_ENST00000442455.3_Missense_Mutation_p.Q548H	p.Q438H			Q2M218	ZN630_HUMAN			5	2248	-			562					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.1314G>C	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259266	0.39995	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.07567	3.18;3.18;3.18	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18215	0.0437	L	0.49699	1.58	0.26163	N	0.979972	D	0.65815	0.995	P	0.61328	0.887	T	0.03840	-1.0999	9	0.59425	D	0.04	.	9.8164	0.40856	0.0:1.0:0.0:0.0	.	562	Q2M218	ZN630_HUMAN	H	548;438;562	ENSP00000393163:Q548H;ENSP00000354683:Q438H;ENSP00000386393:Q562H	ENSP00000354683:Q438H	Q	-	3	2	ZNF630	47803089	0.000000	0.05858	0.993000	0.49108	0.813000	0.45954	-0.211000	0.09332	1.179000	0.42884	0.544000	0.68410	CAG		0.448	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		10	11	0	0	0	0.008291	0	10	11				
F13B	2165	broad.mit.edu	37	1	197024886	197024886	+	Missense_Mutation	SNP	C	C	T	rs192220037		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:197024886C>T	ENST00000367412.1	-	8	1356	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	438	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.R438H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTGTTCGCAACGAGATATTTT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		16038	0.001		0.0	False		,,,				2504	0.0					ENST00000367412.1																			1	Substitution - Missense(1)	p.R438H(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1312-1314)cGt>cAt		coagulation factor XIII, B polypeptide							137.0	132.0	134.0					1																	197024886		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197024886C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1313G>A	1.37:g.197024886C>T	ENSP00000356382:p.Arg438His						p.R438H	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			8	1356	-			438			Sushi 7.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1313G>A	CCDS1388.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.468	-0.560719	0.03939	.	.	ENSG00000143278	ENST00000367412	T	0.64438	-0.1	5.84	-2.74	0.05932	Complement control module (2);Sushi/SCR/CCP (3);	0.812933	0.10027	N	0.725233	T	0.30916	0.0780	N	0.05574	-0.02	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18524	-1.0334	10	0.13108	T	0.6	.	3.4685	0.07558	0.3708:0.2214:0.0:0.4078	.	438	P05160	F13B_HUMAN	H	438	ENSP00000356382:R438H	ENSP00000356382:R438H	R	-	2	0	F13B	195291509	0.003000	0.15002	0.015000	0.15790	0.032000	0.12392	-0.152000	0.10159	-0.376000	0.07943	-0.469000	0.05056	CGT		0.413	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		11	53	0	0	0	0.003163	0	11	53				
DNAH2	146754	broad.mit.edu	37	17	7696466	7696466	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:7696466C>T	ENST00000572933.1	+	48	8972	c.7512C>T	c.(7510-7512)ctC>ctT	p.L2504L	DNAH2_ENST00000389173.2_Silent_p.L2504L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2504	AAA 3. {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)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCCGCCTCTGGATTGACT	0.517																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7510-7512)ctC>ctT		dynein, axonemal, heavy chain 2							96.0	87.0	90.0					17																	7696466		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696466C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7512C>T	17.37:g.7696466C>T						DNAH2_ENST00000389173.2_Silent_p.L2504L	p.L2504L			Q9P225	DYH2_HUMAN			48	8972	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2504			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.7512C>T	CCDS32551.1																																																																																				0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		22	84	0	0	0	0.014323	0	22	84				
TPSD1	23430	broad.mit.edu	37	16	1306640	1306640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:1306640C>T	ENST00000211076.3	+	2	354	c.206C>T	c.(205-207)tCc>tTc	p.S69F	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.S62F	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	69	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCGGGGGCTCCCTCATCCAC	0.687																																						ENST00000211076.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(205-207)tCc>tTc		tryptase delta 1							55.0	66.0	62.0					16																	1306640		2199	4300	6499	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306640C>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.206C>T	16.37:g.1306640C>T	ENSP00000211076:p.Ser69Phe					TPSD1_ENST00000397534.2_Missense_Mutation_p.S62F	p.S69F	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN			2	354	+		Hepatocellular(780;0.00369)	69			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.206C>T	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	14.55	2.567589	0.45694	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.84070	-1.8;-1.8	3.0	3.0	0.34707	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000232	D	0.90789	0.7108	M	0.87328	2.875	0.49213	D	0.99976	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.91740	0.5403	10	0.66056	D	0.02	.	11.7565	0.51878	0.0:1.0:0.0:0.0	.	62;69	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	F	62;69	ENSP00000380668:S62F;ENSP00000211076:S69F	ENSP00000211076:S69F	S	+	2	0	TPSD1	1246641	0.295000	0.24389	0.996000	0.52242	0.142000	0.21351	4.198000	0.58419	1.642000	0.50584	0.185000	0.17295	TCC		0.687	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			22	57	0	0	0	0.016522	0	22	57				
C17orf74	201243	broad.mit.edu	37	17	7329885	7329885	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:7329885C>T	ENST00000333870.3	+	3	649	c.575C>T	c.(574-576)cCc>cTc	p.P192L	C17orf74_ENST00000574034.1_Silent_p.A79A|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	192						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GACAACCTGCCCTTCCCGTAT	0.597																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(574-576)cCc>cTc		chromosome 17 open reading frame 74							126.0	131.0	129.0					17																	7329885		1990	4147	6137	SO:0001583	missense	201243					integral to membrane		g.chr17:7329885C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.575C>T	17.37:g.7329885C>T	ENSP00000328061:p.Pro192Leu					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.A79A	p.P192L	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	649	+		Prostate(122;0.157)	192						Missense_Mutation	SNP	ENST00000333870.3	37	c.575C>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185268	0.21870	.	.	ENSG00000184560	ENST00000333870	T	0.30448	1.53	3.94	1.68	0.24146	.	1.914000	0.02945	N	0.140952	T	0.20251	0.0487	N	0.14661	0.345	0.09310	N	1	B	0.24721	0.11	B	0.22601	0.04	T	0.22103	-1.0226	10	0.48119	T	0.1	-19.3749	6.064	0.19854	0.2188:0.5688:0.2124:0.0	.	192	Q0P670	CQ074_HUMAN	L	192	ENSP00000328061:P192L	ENSP00000328061:P192L	P	+	2	0	C17orf74	7270609	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.048000	0.30379	0.957000	0.37930	0.491000	0.48974	CCC		0.597	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		33	157	0	0	0	0.013726	0	33	157				
ALOXE3	59344	broad.mit.edu	37	17	8021162	8021162	+	Splice_Site	SNP	C	C	T	rs199913948		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:8021162C>T	ENST00000448843.2	-	2	487	c.147G>A	c.(145-147)tcG>tcA	p.S49S	ALOXE3_ENST00000380149.1_Splice_Site_p.S205S|ALOXE3_ENST00000318227.3_Splice_Site_p.S181S	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	49	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TTGTACTCACCGATCCAGGGG	0.612																																						ENST00000380149.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.e1+1		arachidonate lipoxygenase 3							45.0	33.0	37.0					17																	8021162		2203	4300	6503	SO:0001630	splice_region_variant	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8021162C>T	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.147+1G>A	17.37:g.8021162C>T						ALOXE3_ENST00000448843.2_Splice_Site_p.S49_splice|ALOXE3_ENST00000318227.3_Splice_Site_p.S181_splice	p.S205_splice			Q9BYJ1	LOXE3_HUMAN			1	645	-			49			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Splice_Site	SNP	ENST00000448843.2	37	c.615_splice	CCDS11130.1																																																																																				0.612	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		Silent	4	24	0	0	0	0.014758	0	4	24				
LRRC37A4P	55073	broad.mit.edu	37	17	43625502	43625502	+	RNA	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:43625502C>G	ENST00000586411.1	-	0	1652				RP11-798G7.6_ENST00000586348.1_lincRNA																							GGTTTAACCTCTGTAGTAGGT	0.507																																						ENST00000586348.1																			0																																																			55073							g.chr17:43625502C>G																													17.37:g.43625502C>G														0	45	+									RNA	SNP	ENST00000586411.1	37																																																																																						0.507	RP11-798G7.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000452150.1			61	148	0	0	0	0.014410	0	61	148				
TTN	7273	broad.mit.edu	37	2	179616442	179616442	+	Intron	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:179616442G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.S3562F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGCTGGAAGAGTGATGGTG	0.423																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10684-10686)tCt>tTt		titin							74.0	77.0	76.0					2																	179616442		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616442G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1408C>T	2.37:g.179616442G>A						TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.S3562F	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10907	-			3558			Ig-like 21.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10685C>T		.	.	.	.	.	.	.	.	.	.	G	12.74	2.029380	0.35797	.	.	ENSG00000155657	ENST00000360870	T	0.68624	-0.34	5.76	3.96	0.45880	.	.	.	.	.	T	0.57066	0.2028	L	0.28274	0.84	0.80722	D	1	D	0.54964	0.969	P	0.51135	0.66	T	0.50311	-0.8843	9	0.10377	T	0.69	.	10.2808	0.43539	0.0:0.3321:0.568:0.0999	.	3562	Q8WZ42-6	.	F	3562	ENSP00000354117:S3562F	ENSP00000354117:S3562F	S	-	2	0	TTN	179324687	0.686000	0.27661	0.999000	0.59377	0.890000	0.51754	0.696000	0.25541	0.636000	0.30508	0.655000	0.94253	TCT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	101	0	0	0	0.007835	0	41	101				
FAT1	2195	broad.mit.edu	37	4	187539252	187539252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:187539252G>A	ENST00000441802.2	-	10	8697	c.8488C>T	c.(8488-8490)Cag>Tag	p.Q2830*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2830	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCCTGATCTGAATTACTCTA	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(8488-8490)Cag>Tag		FAT atypical cadherin 1							108.0	102.0	104.0					4																	187539252		1900	4137	6037	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539252G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8488C>T	4.37:g.187539252G>A	ENSP00000406229:p.Gln2830*	HNSCC(5;0.00058)					p.Q2830*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8697	-			2830			Cadherin 26.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.8488C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	50	16.712450	0.99870	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.3344	0.90282	0.0:0.0:1.0:0.0	.	.	.	.	X	2830;2832	.	ENSP00000260147:Q2832X	Q	-	1	0	FAT1	187776246	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.657000	0.98554	2.635000	0.89317	0.650000	0.86243	CAG		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		35	72	0	0	0	0.019004	0	35	72				
TRMU	55687	broad.mit.edu	37	22	46752850	46752850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:46752850G>A	ENST00000290846.4	+	11	1553	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	TRMU_ENST00000381019.3_Silent_p.*377*	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	405					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GATGGCCACTGAGAGCCCCAG	0.632																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(1213-1215)Gag>Aag		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							55.0	57.0	56.0					22																	46752850		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46752850G>A	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.1213G>A	22.37:g.46752850G>A	ENSP00000290846:p.Glu405Lys					TRMU_ENST00000381019.3_Silent_p.*377*	p.E405K	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	11	1553	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	405					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.1213G>A	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712323	0.30322	.	.	ENSG00000100416	ENST00000290846	T	0.70749	-0.51	4.32	1.01	0.19927	.	0.713969	0.12987	N	0.422772	T	0.44307	0.1287	N	0.08118	0	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.23368	-1.0190	10	0.23302	T	0.38	-23.7749	5.8804	0.18852	0.4253:0.0:0.5747:0.0	.	251;405	O75648-4;O75648	.;MTU1_HUMAN	K	405	ENSP00000290846:E405K	ENSP00000290846:E405K	E	+	1	0	TRMU	45131514	0.018000	0.18449	0.007000	0.13788	0.001000	0.01503	0.514000	0.22786	0.394000	0.25230	-0.339000	0.08088	GAG		0.632	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		15	39	0	0	0	0.003163	0	15	39				
EYS	346007	broad.mit.edu	37	6	66204916	66204916	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:66204916G>T	ENST00000370621.3	-	4	914	c.388C>A	c.(388-390)Cta>Ata	p.L130I	EYS_ENST00000370618.3_Missense_Mutation_p.L130I|EYS_ENST00000393380.2_Missense_Mutation_p.L130I|EYS_ENST00000342421.5_Missense_Mutation_p.L130I|EYS_ENST00000370616.2_Missense_Mutation_p.L130I|EYS_ENST00000503581.1_Missense_Mutation_p.L130I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	130					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCCTTTTAGTCTGCAGCCA	0.393																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(388-390)Cta>Ata		eyes shut homolog (Drosophila)							71.0	64.0	66.0					6																	66204916		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204916G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.388C>A	6.37:g.66204916G>T	ENSP00000359655:p.Leu130Ile					EYS_ENST00000342421.5_Missense_Mutation_p.L130I|EYS_ENST00000393380.2_Missense_Mutation_p.L130I|EYS_ENST00000370616.2_Missense_Mutation_p.L130I|EYS_ENST00000370618.3_Missense_Mutation_p.L130I|EYS_ENST00000370621.3_Missense_Mutation_p.L130I	p.L130I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	925	-			130					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.388C>A		.	.	.	.	.	.	.	.	.	.	G	12.65	2.000397	0.35320	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89810	-1.57;-1.56;-1.56;-2.57;-2.53;-2.53	4.92	3.08	0.35506	.	.	.	.	.	T	0.64789	0.2630	N	0.19112	0.55	0.09310	N	1	P;P;P	0.45715	0.851;0.865;0.787	B;B;B	0.43301	0.415;0.391;0.219	T	0.58020	-0.7710	9	0.25106	T	0.35	.	3.5866	0.07973	0.0943:0.1743:0.5645:0.167	.	130;130;130	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	130	ENSP00000424243:L130I;ENSP00000359655:L130I;ENSP00000359650:L130I;ENSP00000377042:L130I;ENSP00000341818:L130I;ENSP00000359652:L130I	ENSP00000341818:L130I	L	-	1	2	EYS	66261637	0.106000	0.21978	0.009000	0.14445	0.928000	0.56348	0.787000	0.26858	0.542000	0.28846	0.591000	0.81541	CTA		0.393	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		11	23	1	0	6.40141e-05	0.010729	6.78509e-05	11	23				
RALGDS	5900	broad.mit.edu	37	9	135984211	135984211	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:135984211C>T	ENST00000372050.3	-	5	648	c.627G>A	c.(625-627)tcG>tcA	p.S209S	RALGDS_ENST00000542690.1_Silent_p.S280S|RALGDS_ENST00000372062.3_Silent_p.S180S|RALGDS_ENST00000393160.3_Silent_p.S154S|RALGDS_ENST00000393157.3_Silent_p.S208S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.S197S	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	209	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGAAATCCTCCGAGTACTGGT	0.647			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(460-462)tcG>tcA		ral guanine nucleotide dissociation stimulator							74.0	63.0	67.0					9																	135984211		2203	4299	6502	SO:0001819	synonymous_variant	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135984211C>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.627G>A	9.37:g.135984211C>T						RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Silent_p.S180S|RALGDS_ENST00000372047.3_Silent_p.S197S|RALGDS_ENST00000393157.3_Silent_p.S208S|RALGDS_ENST00000372050.3_Silent_p.S209S|RALGDS_ENST00000542690.1_Silent_p.S280S	p.S154S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	5	815	-			209			N-terminal Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000372050.3	37	c.462G>A	CCDS6959.1																																																																																				0.647	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		5	33	0	0	0	0.014758	0	5	33				
NUTM1	256646	broad.mit.edu	37	15	34649168	34649168	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:34649168G>T	ENST00000333756.4	+	7	3030	c.2875G>T	c.(2875-2877)Ggg>Tgg	p.G959W	NUTM1_ENST00000438749.3_Missense_Mutation_p.G977W|NUTM1_ENST00000537011.1_Missense_Mutation_p.G987W	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	959						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTACACAACTGGGACTCCCAA	0.483																																						ENST00000537011.1																			0											c.(2959-2961)Ggg>Tgg		NUT midline carcinoma, family member 1							56.0	52.0	54.0					15																	34649168		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34649168G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2875G>T	15.37:g.34649168G>T	ENSP00000329448:p.Gly959Trp					NUTM1_ENST00000333756.4_Missense_Mutation_p.G959W|NUTM1_ENST00000438749.3_Missense_Mutation_p.G977W	p.G987W							8	3341	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2959G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.766125	0.31228	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08634	3.09;3.07;3.09	5.3	0.076	0.14401	.	1.246570	0.05472	N	0.553338	T	0.19167	0.0460	L	0.55481	1.735	0.09310	N	1	B;P;D	0.63046	0.397;0.532;0.992	B;B;P	0.58577	0.194;0.356;0.841	T	0.27905	-1.0060	10	0.66056	D	0.02	.	8.0834	0.30758	0.4352:0.0:0.5648:0.0	.	977;987;959	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	W	987;977;959	ENSP00000444896:G987W;ENSP00000407031:G977W;ENSP00000329448:G959W	ENSP00000329448:G959W	G	+	1	0	C15orf55	32436460	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.077000	0.11394	0.093000	0.17368	0.655000	0.94253	GGG		0.483	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		15	26	1	0	4.93089e-13	0.002450	5.39668e-13	15	26				
CEP350	9857	broad.mit.edu	37	1	179989427	179989427	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:179989427G>C	ENST00000367607.3	+	12	2936	c.2518G>C	c.(2518-2520)Gaa>Caa	p.E840Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	840					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCAGAATTGAAAGTGAAGC	0.448																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2518-2520)Gaa>Caa		centrosomal protein 350kDa							135.0	140.0	139.0					1																	179989427		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989427G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2518G>C	1.37:g.179989427G>C	ENSP00000356579:p.Glu840Gln						p.E840Q	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	2936	+			840					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2518G>C	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628118	0.87560	.	.	ENSG00000135837	ENST00000367607	T	0.48522	0.81	6.02	6.02	0.97574	.	0.000000	0.50627	D	0.000116	T	0.61739	0.2371	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.54036	-0.8353	9	.	.	.	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	840;840	E7EU22;Q5VT06	.;CE350_HUMAN	Q	840	ENSP00000356579:E840Q	.	E	+	1	0	CEP350	178256050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.148000	0.94652	2.865000	0.98341	0.655000	0.94253	GAA		0.448	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		57	169	0	0	0	0.014410	0	57	169				
DYNC1LI2	1783	broad.mit.edu	37	16	66766353	66766353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:66766353G>C	ENST00000258198.2	-	7	1024	c.818C>G	c.(817-819)tCa>tGa	p.S273*	DYNC1LI2_ENST00000440564.2_Nonsense_Mutation_p.S234*|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000570201.1_5'Flank|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Nonsense_Mutation_p.S196*	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	273					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTCTTTCACTGATGTGTAAAT	0.378																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(817-819)tCa>tGa		dynein, cytoplasmic 1, light intermediate chain 2							95.0	90.0	92.0					16																	66766353		2200	4300	6500	SO:0001587	stop_gained	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66766353G>C	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.818C>G	16.37:g.66766353G>C	ENSP00000258198:p.Ser273*					DYNC1LI2_ENST00000440564.2_Nonsense_Mutation_p.S234*|DYNC1LI2_ENST00000443351.2_Nonsense_Mutation_p.S196*|DYNC1LI2_ENST00000379482.2_Intron	p.S273*	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	7	1024	-		Ovarian(137;0.0563)	273					A8K6V1|B4DZP4|Q8TAT3	Nonsense_Mutation	SNP	ENST00000258198.2	37	c.818C>G	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	G	38	7.015740	0.98002	.	.	ENSG00000135720	ENST00000258198;ENST00000443351;ENST00000440564	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.9987	19.1741	0.93597	0.0:0.0:1.0:0.0	.	.	.	.	X	273;196;234	.	ENSP00000258198:S273X	S	-	2	0	DYNC1LI2	65323854	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.559000	0.98135	2.759000	0.94783	0.563000	0.77884	TCA		0.378	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		11	17	0	0	0	0.010729	0	11	17				
TRIM26	7726	broad.mit.edu	37	6	30154334	30154334	+	Splice_Site	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:30154334C>T	ENST00000454678.2	-	10	1375	c.939G>A	c.(937-939)gtG>gtA	p.V313V	TRIM26_ENST00000437089.1_Splice_Site_p.V313V|TRIM26_ENST00000453195.1_Splice_Site_p.V313V	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	313	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						GGGTGACGCTCACTGTGGGGA	0.468																																						ENST00000454678.2																			0				lung(1)|ovary(2)	3						c.e10-1		tripartite motif containing 26							38.0	36.0	37.0					6																	30154334		1509	2708	4217	SO:0001630	splice_region_variant	7726						DNA binding|zinc ion binding	g.chr6:30154334C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.938-1G>A	6.37:g.30154334C>T						TRIM26_ENST00000453195.1_Splice_Site_p.V313_splice|TRIM26_ENST00000437089.1_Splice_Site_p.V313_splice	p.V313_splice	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN			10	1375	-			313			B30.2/SPRY.		A6NG96|Q5SRL2	Splice_Site	SNP	ENST00000454678.2	37	c.937_splice	CCDS4678.1																																																																																				0.468	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449	Silent	15	41	0	0	0	0.003163	0	15	41				
NKAIN4	128414	broad.mit.edu	37	20	61873937	61873937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:61873937G>A	ENST00000370316.3	-	6	660	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.H129Y|NKAIN4_ENST00000370313.1_Intron	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TCATTGACATGGTAGAGAGGA	0.453																																						ENST00000370316.3																			0				endometrium(2)|lung(1)|ovary(1)	4						c.(571-573)Cat>Tat		Na+/K+ transporting ATPase interacting 4							208.0	210.0	209.0					20																	61873937		2203	4300	6503	SO:0001583	missense	128414					integral to membrane|plasma membrane		g.chr20:61873937G>A	BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"""Na+/K+ transporting ATPase interacting"""	16191	protein-coding gene	gene with protein product		612873	"""chromosome 20 open reading frame 58"""	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.571C>T	20.37:g.61873937G>A	ENSP00000359340:p.His191Tyr					NKAIN4_ENST00000370307.2_Missense_Mutation_p.H129Y|NKAIN4_ENST00000370313.1_Intron|NKAIN4_ENST00000466885.1_5'UTR	p.H191Y	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN			6	660	-	all_cancers(38;2.72e-09)		191					Q4VXQ6|Q9BQU8|Q9BQU9	Missense_Mutation	SNP	ENST00000370316.3	37	c.571C>T	CCDS13514.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607488	0.66558	.	.	ENSG00000101198	ENST00000370316;ENST00000370307	T;T	0.15256	2.44;2.45	4.54	3.57	0.40892	.	0.159681	0.40554	U	0.001062	T	0.41119	0.1145	M	0.75447	2.3	0.37802	D	0.927726	D	0.76494	0.999	D	0.83275	0.996	T	0.49428	-0.8941	10	0.72032	D	0.01	-14.4004	13.3637	0.60671	0.0:0.0:0.8406:0.1594	.	191	Q8IVV8	NKAI4_HUMAN	Y	191;129	ENSP00000359340:H191Y;ENSP00000359330:H129Y	ENSP00000359330:H129Y	H	-	1	0	NKAIN4	61344382	1.000000	0.71417	0.772000	0.31596	0.894000	0.52154	5.299000	0.65716	0.855000	0.35359	0.491000	0.48974	CAT		0.453	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080117.3	NM_152864		65	198	0	0	0	0.014410	0	65	198				
MAGEC1	9947	broad.mit.edu	37	X	140995473	140995473	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:140995473G>A	ENST00000285879.4	+	4	2569	c.2283G>A	c.(2281-2283)gaG>gaA	p.E761E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	761										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCCCTGAGAGTCCTCAGA	0.542										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2281-2283)gaG>gaA		melanoma antigen family C, 1							129.0	142.0	137.0					X																	140995473		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995473G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2283G>A	X.37:g.140995473G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.E761E	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2569	+	Acute lymphoblastic leukemia(192;6.56e-05)		761					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2283G>A	CCDS35417.1																																																																																				0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		82	238	0	0	0	0.014410	0	82	238				
LOC440040	440040	broad.mit.edu	37	11	49831788	49831788	+	RNA	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:49831788C>T	ENST00000527477.1	+	0	2013																											CTGTATTCATCTCTGACCAGA	0.433																																						ENST00000527477.1																			0																																																			440040							g.chr11:49831788C>T																													11.37:g.49831788C>T														0	2013	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.433	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			17	202	0	0	0	0.007413	0	17	202				
OBSCN	84033	broad.mit.edu	37	1	228459794	228459794	+	Intron	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:228459794C>T	ENST00000422127.1	+	18	5181				OBSCN_ENST00000570156.2_Missense_Mutation_p.S1953L|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.S425L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGCTCGAAAATGCGT	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5857-5859)tCg>tTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							77.0	74.0	75.0					1																	228459794		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228459794C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5138-1677C>T	1.37:g.228459794C>T						OBSCN_ENST00000284548.11_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.S425L	p.S1953L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			20	5932	+		Prostate(94;0.0405)	934			Ig-like 19.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.5858C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060908	0.36373	.	.	ENSG00000154358	ENST00000359599	T	0.05319	3.46	4.95	2.86	0.33363	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.44966	D	0.997988	.	.	.	.	.	.	T	0.20405	-1.0276	6	0.28530	T	0.3	.	11.3245	0.49440	0.6284:0.3716:0.0:0.0	.	.	.	.	L	425	ENSP00000352613:S425L	ENSP00000352613:S425L	S	+	2	0	OBSCN	226526417	0.000000	0.05858	0.649000	0.29536	0.013000	0.08279	0.282000	0.18829	1.078000	0.41014	0.511000	0.50034	TCG		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		13	72	0	0	0	0.016723	0	13	72				
MYLK3	91807	broad.mit.edu	37	16	46741676	46741676	+	Splice_Site	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:46741676C>T	ENST00000394809.4	-	13	2516		c.e13-1		MYLK3_ENST00000536476.1_Splice_Site|MYLK3_ENST00000562104.1_Splice_Site	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3						cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGAAATGTTTCTTGAGGCAAG	0.393																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.e13-1		myosin light chain kinase 3							78.0	75.0	76.0					16																	46741676		2203	4300	6503	SO:0001630	splice_region_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46741676C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2401-1G>A	16.37:g.46741676C>T						MYLK3_ENST00000536476.1_Splice_Site|MYLK3_ENST00000562104.1_Splice_Site		NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			13	2516	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)						B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Splice_Site	SNP	ENST00000394809.4	37		CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791988	0.70452	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9916	0.92794	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYLK3	45299177	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	6.054000	0.71096	2.501000	0.84356	0.467000	0.42956	.		0.393	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493	Intron	13	47	0	0	0	0.016723	0	13	47				
CPA6	57094	broad.mit.edu	37	8	68334861	68334861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:68334861C>T	ENST00000297770.4	-	11	1407	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CPA6_ENST00000297769.4_Missense_Mutation_p.E154K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	398						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E398K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCACGTAGTTCGAAAGCAAAT	0.383																																						ENST00000297770.4																			1	Substitution - Missense(1)	p.E398K(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(1192-1194)Gaa>Aaa		carboxypeptidase A6							130.0	130.0	130.0					8																	68334861		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68334861C>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.1192G>A	8.37:g.68334861C>T	ENSP00000297770:p.Glu398Lys					CPA6_ENST00000297769.4_Missense_Mutation_p.E154K	p.E398K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		11	1407	-			398					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.1192G>A	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151144	0.78001	.	.	ENSG00000165078	ENST00000297769;ENST00000297770	T;T	0.59364	0.27;0.27	5.86	4.99	0.66335	Peptidase M14, carboxypeptidase A (2);	0.049117	0.85682	N	0.000000	T	0.75539	0.3863	M	0.75150	2.29	0.33097	D	0.538687	P;D	0.89917	0.842;1.0	B;D	0.97110	0.214;1.0	D	0.84068	0.0378	10	0.72032	D	0.01	.	14.9884	0.71365	0.0:0.9318:0.0:0.0682	.	154;398	Q8N4T0-3;Q8N4T0	.;CBPA6_HUMAN	K	154;398	ENSP00000297769:E154K;ENSP00000297770:E398K	ENSP00000297769:E154K	E	-	1	0	CPA6	68497415	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.464000	0.80887	1.486000	0.48398	0.591000	0.81541	GAA		0.383	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		38	94	0	0	0	0.006230	0	38	94				
MAPK8IP1	9479	broad.mit.edu	37	11	45926322	45926322	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:45926322C>G	ENST00000241014.2	+	9	2000	c.1830C>G	c.(1828-1830)gtC>gtG	p.V610V	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Silent_p.V600V	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	610	Interaction with VRK2.|PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCAGCTGTGTCCTGGAGATCA	0.607																																						ENST00000395629.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(1798-1800)gtC>gtG		mitogen-activated protein kinase 8 interacting protein 1							81.0	86.0	85.0					11																	45926322		2203	4299	6502	SO:0001819	synonymous_variant	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45926322C>G		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1830C>G	11.37:g.45926322C>G						MAPK8IP1_ENST00000241014.2_Silent_p.V610V	p.V600V			Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	9	2130	+			610			PID.		D3DQP4|O43407	Silent	SNP	ENST00000241014.2	37	c.1800C>G	CCDS7916.1																																																																																				0.607	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		28	86	0	0	0	0.004656	0	28	86				
ACACB	32	broad.mit.edu	37	12	109673414	109673414	+	Missense_Mutation	SNP	G	G	C	rs374477026		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:109673414G>C	ENST00000338432.7	+	33	4527	c.4408G>C	c.(4408-4410)Gaa>Caa	p.E1470Q	ACACB_ENST00000377848.3_Missense_Mutation_p.E1470Q|ACACB_ENST00000543201.1_Missense_Mutation_p.E136Q|ACACB_ENST00000377854.5_Missense_Mutation_p.E1400Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1470					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTTGCAGAAAGAATTTCCCAA	0.328																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4408-4410)Gaa>Caa		acetyl-CoA carboxylase beta	Biotin(DB00121)						137.0	125.0	129.0					12																	109673414		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109673414G>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4408G>C	12.37:g.109673414G>C	ENSP00000341044:p.Glu1470Gln					ACACB_ENST00000543201.1_Missense_Mutation_p.E136Q|ACACB_ENST00000377854.5_Missense_Mutation_p.E1400Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1470Q	p.E1470Q			O00763	ACACB_HUMAN			33	4527	+			1470					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4408G>C	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059777	0.55325	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.09	5.09	0.68999	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	L	0.37561	1.115	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.33979	-0.9847	10	0.06625	T	0.88	.	18.8809	0.92356	0.0:0.0:1.0:0.0	.	1470	O00763	ACACB_HUMAN	Q	1470;1470;1400;701;136	ENSP00000341044:E1470Q;ENSP00000367079:E1470Q;ENSP00000367085:E1400Q;ENSP00000444075:E136Q	ENSP00000341044:E1470Q	E	+	1	0	ACACB	108157797	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.772000	0.98984	2.546000	0.85860	0.609000	0.83330	GAA		0.328	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		12	20	0	0	0	0.013537	0	12	20				
WSB1	26118	broad.mit.edu	37	17	25628934	25628934	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:25628934G>T	ENST00000262394.2	+	2	477	c.161G>T	c.(160-162)gGa>gTa	p.G54V	WSB1_ENST00000581185.1_Missense_Mutation_p.G54V|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.G23V|WSB1_ENST00000578312.1_3'UTR	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	54					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGGTCACAAGGACATCGCACA	0.413																																						ENST00000262394.2																			0				lung(3)	3						c.(160-162)gGa>gTa		WD repeat and SOCS box containing 1							343.0	310.0	321.0					17																	25628934		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25628934G>T	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.161G>T	17.37:g.25628934G>T	ENSP00000262394:p.Gly54Val					WSB1_ENST00000581185.1_Missense_Mutation_p.G54V|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.G23V|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000583193.1_Intron	p.G54V	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	477	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		54					Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.161G>T	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242600	0.22796	.	.	ENSG00000109046	ENST00000262394;ENST00000427287	T;T	0.59906	0.23;0.23	5.81	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.076548	0.53938	D	0.000044	T	0.69708	0.3141	L	0.54323	1.7	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.071	D;D;B	0.91635	0.998;0.999;0.039	T	0.65833	-0.6072	10	0.19147	T	0.46	-12.1882	15.3579	0.74443	0.0:0.0:0.8594:0.1405	.	23;54;54	B4DGB8;B4DTL1;Q9Y6I7	.;.;WSB1_HUMAN	V	54;23	ENSP00000262394:G54V;ENSP00000416112:G23V	ENSP00000262394:G54V	G	+	2	0	WSB1	22653061	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	9.240000	0.95396	1.437000	0.47472	-0.182000	0.12963	GGA		0.413	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		35	201	1	0	3.76114e-14	0.019004	4.12987e-14	35	201				
EPHA5	2044	broad.mit.edu	37	4	66356413	66356413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:66356413G>C	ENST00000273854.3	-	5	1684	c.1084C>G	c.(1084-1086)Cgg>Ggg	p.R362G	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.R362G|EPHA5_ENST00000354839.4_Missense_Mutation_p.R362G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	362	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATGGCATTCCGAGGAGCAGAG	0.393										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1084-1086)Cgg>Ggg		EPH receptor A5							42.0	42.0	42.0					4																	66356413		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356413G>C	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1084C>G	4.37:g.66356413G>C	ENSP00000273854:p.Arg362Gly	TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Missense_Mutation_p.R362G|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.R362G	p.R362G	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1684	-			362			Fibronectin type-III 1.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1084C>G	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361637	0.61403	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.57436	0.4;0.4;0.4	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000052	T	0.77356	0.4118	M	0.87971	2.92	0.80722	D	1	D;B;D;B	0.65815	0.995;0.066;0.994;0.045	D;B;D;B	0.67725	0.953;0.143;0.922;0.013	T	0.79722	-0.1684	10	0.66056	D	0.02	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	362;362;362;362	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	G	362	ENSP00000273854:R362G;ENSP00000346899:R362G;ENSP00000427638:R362G	ENSP00000273854:R362G	R	-	1	2	EPHA5	66039008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.912000	0.87465	2.777000	0.95525	0.591000	0.81541	CGG		0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		13	37	0	0	0	0.016723	0	13	37				
COLGALT2	23127	broad.mit.edu	37	1	183938459	183938459	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:183938459T>G	ENST00000361927.4	-	5	1147	c.776A>C	c.(775-777)gAc>gCc	p.D259A	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D259A	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	259					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CCAGGTGTAGTCCTGGTGTGG	0.537																																						ENST00000361927.4																			0											c.(775-777)gAc>gCc		collagen beta(1-O)galactosyltransferase 2							133.0	118.0	123.0					1																	183938459		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183938459T>G	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.776A>C	1.37:g.183938459T>G	ENSP00000354960:p.Asp259Ala					COLGALT2_ENST00000546159.1_Missense_Mutation_p.D259A	p.D259A	NM_015101.2	NP_055916.1					5	1147	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.776A>C	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440898	0.83993	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.19532	2.14;2.14	5.45	4.33	0.51752	.	0.093718	0.64402	D	0.000001	T	0.41604	0.1166	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.66351	0.943;0.905	T	0.18272	-1.0342	10	0.35671	T	0.21	-19.6249	10.9148	0.47129	0.0:0.0735:0.0:0.9265	.	259;259	F5H3T5;Q8IYK4	.;GT252_HUMAN	A	259	ENSP00000439112:D259A;ENSP00000354960:D259A	ENSP00000354960:D259A	D	-	2	0	GLT25D2	182205082	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.699000	0.84547	0.919000	0.36945	0.482000	0.46254	GAC		0.537	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		24	71	0	0	0	0.018920	0	24	71				
GBA2	57704	broad.mit.edu	37	9	35750328	35750328	+	5'Flank	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:35750328C>A	ENST00000378103.3	-	0	0				GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000378078.4_Missense_Mutation_p.Q69K|GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.Q109K|MSMP_ENST00000414286.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGACTCTAGTCAGCCAGATGT	0.612																																						ENST00000378078.4																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(205-207)Cag>Aag		RGP1 retrograde golgi transport homolog (S. cerevisiae)							37.0	38.0	38.0					9																	35750328		2039	4186	6225	SO:0001631	upstream_gene_variant	9827							g.chr9:35750328C>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35750328C>A	Exception_encountered					RGP1_ENST00000456972.2_Missense_Mutation_p.Q109K	p.Q69K	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	346	+	all_epithelial(49;0.167)		69					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.205C>A	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	6.990	0.552694	0.13374	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.33	5.33	0.75918	.	0.235838	0.43579	D	0.000546	T	0.26011	0.0634	N	0.03115	-0.41	0.41687	D	0.989322	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.19943	-1.0290	9	0.05833	T	0.94	-12.44	13.4625	0.61235	0.1572:0.8428:0.0:0.0	.	69;69	Q92546;A8K0K1	RGP1_HUMAN;.	K	109;69	.	ENSP00000367318:Q69K	Q	+	1	0	RGP1	35740328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.373000	0.59537	2.478000	0.83669	0.655000	0.94253	CAG		0.612	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		9	31	1	0	9.05144e-12	0.016723	9.8743e-12	9	31				
STRIP1	85369	broad.mit.edu	37	1	110590408	110590408	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:110590408G>A	ENST00000369795.3	+	15	1600	c.1578G>A	c.(1576-1578)aaG>aaA	p.K526K	STRIP1_ENST00000369796.1_Silent_p.K431K|STRIP1_ENST00000461054.1_3'UTR	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	526					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CCCTCCTGAAGATCCTGTTGG	0.517																																						ENST00000369795.3																			0											c.(1576-1578)aaG>aaA		striatin interacting protein 1							82.0	68.0	73.0					1																	110590408		2199	4294	6493	SO:0001819	synonymous_variant	85369							g.chr1:110590408G>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1578G>A	1.37:g.110590408G>A						STRIP1_ENST00000461054.1_3'UTR|STRIP1_ENST00000369796.1_Silent_p.K431K	p.K526K	NM_033088.2	NP_149079.2					15	1600	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	c.1578G>A	CCDS30798.1																																																																																				0.517	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		5	6	0	0	0	0.001168	0	5	6				
DCAF17	80067	broad.mit.edu	37	2	172314572	172314572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:172314572C>A	ENST00000375255.3	+	7	1046	c.719C>A	c.(718-720)aCc>aAc	p.T240N	DCAF17_ENST00000539783.1_Missense_Mutation_p.T240N|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	240					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AGCTTCCAAACCATCGCTGAA	0.388																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.(718-720)aCc>aAc		DDB1 and CUL4 associated factor 17							195.0	185.0	188.0					2																	172314572		1913	4123	6036	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314572C>A	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.719C>A	2.37:g.172314572C>A	ENSP00000364404:p.Thr240Asn					DCAF17_ENST00000539783.1_Missense_Mutation_p.T240N|DCAF17_ENST00000468592.1_3'UTR	p.T240N	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			7	1046	+			240					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.719C>A	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251907	0.22880	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.43688	0.94;0.94	5.91	4.91	0.64330	.	0.446038	0.24189	N	0.040740	T	0.25754	0.0627	N	0.22421	0.69	0.25466	N	0.987875	B;B	0.18610	0.029;0.009	B;B	0.18561	0.017;0.022	T	0.16689	-1.0394	10	0.21014	T	0.42	-0.4176	7.1131	0.25401	0.1589:0.7344:0.0:0.1066	.	240;240	F5H7W1;Q5H9S7	.;DCA17_HUMAN	N	240	ENSP00000364404:T240N;ENSP00000442238:T240N	ENSP00000364404:T240N	T	+	2	0	DCAF17	172022818	0.995000	0.38212	1.000000	0.80357	0.874000	0.50279	0.970000	0.29383	1.249000	0.43950	0.650000	0.86243	ACC		0.388	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		81	231	1	0	1.21826e-31	0.014410	1.36445e-31	81	231				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	44	0	0	0	0.013537	0	12	44				
WAS	7454	broad.mit.edu	37	X	48542320	48542320	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:48542320C>G	ENST00000376701.4	+	1	153	c.78C>G	c.(76-78)ctC>ctG	p.L26L	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	26					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCTCCACCCTCCTCCAGGACC	0.617			"""Mis, N, F, S"""			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(76-78)ctC>ctG		Wiskott-Aldrich syndrome							113.0	88.0	96.0					X																	48542320		2203	4300	6503	SO:0001819	synonymous_variant	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48542320C>G	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.78C>G	X.37:g.48542320C>G						WAS_ENST00000483750.1_3'UTR	p.L26L	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			1	153	+		all_lung(315;1.27e-10)	26					Q9BU11|Q9UNJ9	Silent	SNP	ENST00000376701.4	37	c.78C>G	CCDS14303.1																																																																																				0.617	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		16	50	0	0	0	0.007413	0	16	50				
LIPE	3991	broad.mit.edu	37	19	42912238	42912238	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:42912238A>G	ENST00000244289.4	-	4	1822	c.1546T>C	c.(1546-1548)Ttt>Ctt	p.F516L	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	516					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCGATGGCAAAGCGGCCGCTG	0.627																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1546-1548)Ttt>Ctt		lipase, hormone-sensitive							75.0	77.0	77.0					19																	42912238		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912238A>G	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1546T>C	19.37:g.42912238A>G	ENSP00000244289:p.Phe516Leu					LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA	p.F516L	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			4	1822	-		Prostate(69;0.00682)	516					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1546T>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699442	0.68501	.	.	ENSG00000079435	ENST00000244289	T	0.34072	1.38	4.3	4.3	0.51218	Hormone-sensitive lipase, N-terminal (1);	0.261873	0.32204	N	0.006427	T	0.45637	0.1352	L	0.27053	0.805	0.43930	D	0.99658	B;D	0.63046	0.279;0.992	B;D	0.76071	0.115;0.987	T	0.48352	-0.9043	10	0.72032	D	0.01	-9.3274	12.725	0.57166	1.0:0.0:0.0:0.0	.	516;516	A8K8W7;Q05469	.;LIPS_HUMAN	L	516	ENSP00000244289:F516L	ENSP00000244289:F516L	F	-	1	0	LIPE	47604078	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.869000	0.69613	1.723000	0.51488	0.459000	0.35465	TTT		0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		14	74	0	0	0	0.004007	0	14	74				
ZNF300	91975	broad.mit.edu	37	5	150276445	150276445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:150276445C>T	ENST00000274599.5	-	6	776	c.356G>A	c.(355-357)gGt>gAt	p.G119D	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.G135D|ZNF300_ENST00000418587.2_Missense_Mutation_p.G83D|ZNF300_ENST00000394226.2_Missense_Mutation_p.G119D	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	119					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)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAATGAACCATCCCTTGT	0.413																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(403-405)gGt>gAt		zinc finger protein 300							90.0	84.0	86.0					5																	150276445		2203	4299	6502	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276445C>T	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.356G>A	5.37:g.150276445C>T	ENSP00000274599:p.Gly119Asp					ZNF300_ENST00000418587.2_Missense_Mutation_p.G83D|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.G119D|ZNF300_ENST00000394226.2_Missense_Mutation_p.G119D	p.G135D	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	831	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	119					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.404G>A	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	0.137	-1.106470	0.01828	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07908	3.22;3.23;3.15;3.22	2.32	-0.503	0.12000	.	.	.	.	.	T	0.03608	0.0103	N	0.11064	0.09	0.25226	N	0.989864	B	0.02656	0.0	B	0.01281	0.0	T	0.48139	-0.9061	9	0.11794	T	0.64	.	6.456	0.21930	0.0:0.6066:0.0:0.3934	.	119	Q96RE9	ZN300_HUMAN	D	135;119;83;119	ENSP00000397178:G135D;ENSP00000274599:G119D;ENSP00000392593:G83D;ENSP00000377773:G119D	ENSP00000274599:G119D	G	-	2	0	ZNF300	150256638	0.001000	0.12720	0.996000	0.52242	0.823000	0.46562	-0.155000	0.10115	-0.160000	0.11002	0.455000	0.32223	GGT		0.413	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		26	24	0	0	0	0.018920	0	26	24				
OBSCN	84033	broad.mit.edu	37	1	228495827	228495827	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:228495827T>C	ENST00000422127.1	+	47	12526	c.12482T>C	c.(12481-12483)aTt>aCt	p.I4161T	OBSCN_ENST00000366709.4_Missense_Mutation_p.I1280T|OBSCN_ENST00000570156.2_Missense_Mutation_p.I5118T|OBSCN_ENST00000284548.11_Missense_Mutation_p.I4161T|OBSCN_ENST00000366707.4_Missense_Mutation_p.I1795T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4161					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGACCATTGTACGGGGG	0.612																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15352-15354)aTt>aCt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							79.0	89.0	85.0					1																	228495827		2111	4226	6337	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495827T>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12482T>C	1.37:g.228495827T>C	ENSP00000409493:p.Ile4161Thr					OBSCN_ENST00000284548.11_Missense_Mutation_p.I4161T|OBSCN_ENST00000422127.1_Missense_Mutation_p.I4161T|OBSCN_ENST00000366709.4_Missense_Mutation_p.I1280T|OBSCN_ENST00000366707.4_Missense_Mutation_p.I1795T	p.I5118T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			58	15427	+		Prostate(94;0.0405)	4161					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15353T>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281214	0.80692	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	6.04	6.04	0.98038	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.87059	0.6083	M	0.92604	3.325	0.46499	D	0.999073	D;D	0.89917	0.997;1.0	D;D	0.74023	0.932;0.982	D	0.87271	0.2286	10	0.29301	T	0.29	.	16.25	0.82478	0.0:0.0:0.0:1.0	.	4161;4161	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	4161;4161;1795;1280	ENSP00000284548:I4161T;ENSP00000409493:I4161T;ENSP00000355668:I1795T;ENSP00000355670:I1280T	ENSP00000284548:I4161T	I	+	2	0	OBSCN	226562450	0.998000	0.40836	0.940000	0.37924	0.536000	0.34869	2.952000	0.49097	2.317000	0.78254	0.460000	0.39030	ATT		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	68	0	0	0	0.002450	0	14	68				
KCNJ12	3768	broad.mit.edu	37	17	21318895	21318895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:21318895C>T	ENST00000583088.1	+	3	1136	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81W	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	81					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R81G(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CATCCGCTGGCGGTACATGCT	0.577										Prostate(3;0.18)																												ENST00000583088.1																			1	Substitution - Missense(1)	p.R81G(1)	lung(1)	NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(241-243)Cgg>Tgg		potassium inwardly-rectifying channel, subfamily J, member 12							205.0	126.0	153.0					17																	21318895		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21318895C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.241C>T	17.37:g.21318895C>T	ENSP00000463778:p.Arg81Trp	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81W	p.R81W	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1136	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.241C>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843005	0.71488	.	.	ENSG00000184185	ENST00000331718	D	0.96011	-3.88	5.33	4.31	0.51392	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98223	1.0479	10	0.87932	D	0	.	10.7711	0.46323	0.4271:0.5729:0.0:0.0	.	81	Q14500	IRK12_HUMAN	W	81	ENSP00000328150:R81W	ENSP00000328150:R81W	R	+	1	2	KCNJ12	21259488	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.669000	0.46825	2.506000	0.84524	0.591000	0.81541	CGG		0.577	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		9	89	0	0	0	0.006214	0	9	89				
GPR112	139378	broad.mit.edu	37	X	135431707	135431707	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:135431707A>T	ENST00000394143.1	+	6	6133	c.5842A>T	c.(5842-5844)Aac>Tac	p.N1948Y	GPR112_ENST00000412101.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000287534.4_Missense_Mutation_p.N1885Y|GPR112_ENST00000394141.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000370652.1_Missense_Mutation_p.N1948Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1948					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTCTTCCTAACCATGGGCT	0.418																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5842-5844)Aac>Tac		G protein-coupled receptor 112							118.0	111.0	113.0					X																	135431707		2203	4299	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431707A>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5842A>T	X.37:g.135431707A>T	ENSP00000377699:p.Asn1948Tyr					GPR112_ENST00000394141.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000370652.1_Missense_Mutation_p.N1948Y|GPR112_ENST00000412101.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000287534.4_Missense_Mutation_p.N1885Y	p.N1948Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	6133	+	Acute lymphoblastic leukemia(192;0.000127)		1948					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5842A>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	2.435	-0.329841	0.05314	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29655	1.59;1.59;1.56;1.7;1.56	3.94	1.28	0.21552	.	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B;B;B	0.31351	0.32;0.115;0.029	B;B;B	0.28385	0.089;0.055;0.001	T	0.25882	-1.0119	9	0.27082	T	0.32	.	6.3649	0.21449	0.5989:0.0:0.0:0.4011	.	1885;1743;1948	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Y	1948;1948;1743;1885;1743	ENSP00000377699:N1948Y;ENSP00000359686:N1948Y;ENSP00000416526:N1743Y;ENSP00000287534:N1885Y;ENSP00000377697:N1743Y	ENSP00000287534:N1885Y	N	+	1	0	GPR112	135259373	0.009000	0.17119	0.036000	0.18154	0.122000	0.20287	1.067000	0.30616	-0.028000	0.13850	-0.583000	0.04132	AAC		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			6	147	0	0	0	0.001984	0	6	147				
KCNU1	157855	broad.mit.edu	37	8	36671785	36671785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:36671785G>A	ENST00000399881.3	+	8	830	c.793G>A	c.(793-795)Gag>Aag	p.E265K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	265					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATATTTTGAGTCAATTTA	0.418																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(793-795)Gag>Aag		potassium channel, subfamily U, member 1							70.0	66.0	67.0					8																	36671785		1868	4094	5962	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36671785G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.793G>A	8.37:g.36671785G>A	ENSP00000382770:p.Glu265Lys						p.E265K	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	8	830	+			265						Missense_Mutation	SNP	ENST00000399881.3	37	c.793G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680506	0.47886	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	D;D	0.98567	-5.0;-5.0	5.37	4.49	0.54785	Ion transport (1);	0.921823	0.08854	U	0.883941	D	0.96738	0.8935	L	0.38838	1.175	0.80722	D	1	P	0.34955	0.477	B	0.37888	0.26	D	0.92281	0.5833	10	0.66056	D	0.02	-8.5508	14.932	0.70923	0.0:0.1443:0.8557:0.0	.	265	A8MYU2	KCNU1_HUMAN	K	265	ENSP00000429951:E265K;ENSP00000382770:E265K	ENSP00000382770:E265K	E	+	1	0	KCNU1	36790943	1.000000	0.71417	0.710000	0.30468	0.026000	0.11368	5.123000	0.64703	1.238000	0.43771	0.467000	0.42956	GAG		0.418	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		17	18	0	0	0	0.004990	0	17	18				
VPS13A	23230	broad.mit.edu	37	9	79910535	79910535	+	Silent	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:79910535T>G	ENST00000360280.3	+	33	3845	c.3585T>G	c.(3583-3585)acT>acG	p.T1195T	VPS13A_ENST00000376634.4_Silent_p.T1195T|VPS13A_ENST00000357409.5_Silent_p.T1195T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Silent_p.T1156T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1195					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGCTGCTACTGGTGTAAAAG	0.433																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(3583-3585)acT>acG		vacuolar protein sorting 13 homolog A (S. cerevisiae)							84.0	79.0	81.0					9																	79910535		2203	4300	6503	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79910535T>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3585T>G	9.37:g.79910535T>G						VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1195T|VPS13A_ENST00000376636.3_Silent_p.T1156T|VPS13A_ENST00000357409.5_Silent_p.T1195T	p.T1195T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			33	3845	+			1195					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.3585T>G	CCDS6655.1																																																																																				0.433	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		9	50	0	0	0	0.004482	0	9	50				
ST5	6764	broad.mit.edu	37	11	8736175	8736175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:8736175C>T	ENST00000534127.1	-	10	2309	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.E642K|ST5_ENST00000526757.1_Missense_Mutation_p.E222K|ST5_ENST00000530438.1_Missense_Mutation_p.E222K|ST5_ENST00000530991.1_Missense_Mutation_p.E114K|ST5_ENST00000357665.1_Missense_Mutation_p.E642K|ST5_ENST00000526099.1_Missense_Mutation_p.E155K	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	642					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GATGCTGTTTCAATGCTGGAC	0.468																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1924-1926)Gaa>Aaa		suppression of tumorigenicity 5							234.0	211.0	219.0					11																	8736175		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8736175C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1924G>A	11.37:g.8736175C>T	ENSP00000433528:p.Glu642Lys					ST5_ENST00000357665.1_Missense_Mutation_p.E642K|ST5_ENST00000526757.1_Missense_Mutation_p.E222K|ST5_ENST00000526099.1_Missense_Mutation_p.E155K|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.E114K|ST5_ENST00000530438.1_Missense_Mutation_p.E222K|ST5_ENST00000313726.6_Missense_Mutation_p.E642K	p.E642K	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	10	2309	-			642					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1924G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135416	0.77662	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527	T;T;T;T;T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.40543	1.245	0.80722	D	1	D;B;B	0.58620	0.983;0.066;0.001	P;B;B	0.60949	0.881;0.059;0.007	T	0.00123	-1.2026	10	0.44086	T	0.13	-18.1457	17.7409	0.88406	0.0:1.0:0.0:0.0	.	155;222;642	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	K	222;642;642;114;642;155;222;114;252;114;114	ENSP00000435097:E222K;ENSP00000433528:E642K;ENSP00000319678:E642K;ENSP00000432887:E114K;ENSP00000350294:E642K;ENSP00000436808:E155K;ENSP00000436802:E222K;ENSP00000433588:E114K;ENSP00000437096:E114K;ENSP00000431580:E114K	ENSP00000319678:E642K	E	-	1	0	ST5	8692751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.938000	0.75904	2.637000	0.89404	0.650000	0.86243	GAA		0.468	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		6	27	0	0	0	0.001168	0	6	27				
CANT1	124583	broad.mit.edu	37	17	76991155	76991155	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:76991155C>T	ENST00000302345.2	-	3	1274	c.780G>A	c.(778-780)gaG>gaA	p.E260E	CANT1_ENST00000392446.5_Silent_p.E260E|CANT1_ENST00000591773.1_Silent_p.E260E	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	260					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACACCCAGTTCTCGTGGTCCA	0.652			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(778-780)gaG>gaA		calcium activated nucleotidase 1							71.0	58.0	62.0					17																	76991155		2203	4300	6503	SO:0001819	synonymous_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76991155C>T	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.780G>A	17.37:g.76991155C>T						CANT1_ENST00000392446.5_Silent_p.E260E|CANT1_ENST00000591773.1_Silent_p.E260E	p.E260E	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		3	1274	-			260					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Silent	SNP	ENST00000302345.2	37	c.780G>A	CCDS11760.1																																																																																				0.652	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		6	13	0	0	0	0.001168	0	6	13				
PHIP	55023	broad.mit.edu	37	6	79655871	79655871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:79655871G>C	ENST00000275034.4	-	38	4644	c.4477C>G	c.(4477-4479)Cag>Gag	p.Q1493E	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1493					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCGTTTATCTGAGCAGCATTG	0.433																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4477-4479)Cag>Gag		pleckstrin homology domain interacting protein							197.0	172.0	181.0					6																	79655871		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655871G>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4477C>G	6.37:g.79655871G>C	ENSP00000275034:p.Gln1493Glu					PHIP_ENST00000479165.1_5'UTR	p.Q1493E	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4644	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1493					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4477C>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899908	0.33535	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.38887	1.11	5.96	5.96	0.96718	.	0.078877	0.53938	D	0.000043	T	0.22399	0.0540	L	0.27053	0.805	0.48087	D	0.999581	P;P	0.48764	0.915;0.915	B;B	0.40940	0.344;0.344	T	0.01386	-1.1368	9	.	.	.	-10.1262	19.4101	0.94667	0.0:0.0:1.0:0.0	.	1493;1493	A7J992;Q8WWQ0	.;PHIP_HUMAN	E	1493;219	ENSP00000275034:Q1493E	.	Q	-	1	0	PHIP	79712590	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.757000	0.74924	2.832000	0.97577	0.655000	0.94253	CAG		0.433	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	89	0	0	0	0.001984	0	7	89				
USP8	9101	broad.mit.edu	37	15	50774167	50774167	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:50774167G>C	ENST00000396444.3	+	11	2046	c.1708G>C	c.(1708-1710)Gat>Cat	p.D570H	USP8_ENST00000425032.3_Missense_Mutation_p.D493H|USP8_ENST00000433963.1_Missense_Mutation_p.D570H|USP8_ENST00000307179.4_Missense_Mutation_p.D570H	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	570					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTGTAGAAGATAGGGGGAA	0.418																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1708-1710)Gat>Cat		ubiquitin specific peptidase 8							51.0	51.0	51.0					15																	50774167		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50774167G>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1708G>C	15.37:g.50774167G>C	ENSP00000379721:p.Asp570His					USP8_ENST00000425032.3_Missense_Mutation_p.D493H|USP8_ENST00000396444.3_Missense_Mutation_p.D570H|USP8_ENST00000307179.4_Missense_Mutation_p.D570H	p.D570H	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	12	2208	+			570					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1708G>C	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430619	0.43122	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.77	4.77	0.60923	.	0.306106	0.28796	N	0.014110	T	0.45637	0.1352	L	0.27053	0.805	0.35301	D	0.783044	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.56700	0.804;0.804;0.804	T	0.57568	-0.7789	10	0.46703	T	0.11	-9.5826	15.5808	0.76439	0.0:0.0:1.0:0.0	.	493;570;570	B4DKA8;P40818;A8K8N5	.;UBP8_HUMAN;.	H	570;570;570;493	ENSP00000379721:D570H;ENSP00000405537:D570H;ENSP00000302239:D570H;ENSP00000412682:D493H	ENSP00000302239:D570H	D	+	1	0	USP8	48561459	1.000000	0.71417	0.889000	0.34880	0.093000	0.18481	3.899000	0.56288	2.185000	0.69588	0.557000	0.71058	GAT		0.418	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		10	29	0	0	0	0.006214	0	10	29				
PLCE1	51196	broad.mit.edu	37	10	95791784	95791784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:95791784G>C	ENST00000371380.3	+	1	1216	c.981G>C	c.(979-981)agG>agC	p.R327S	PLCE1_ENST00000260766.3_Missense_Mutation_p.R327S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	327					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTTAGTCAGGAGATTCTGTA	0.403																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(979-981)agG>agC		phospholipase C, epsilon 1							99.0	99.0	99.0					10																	95791784		1845	4095	5940	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791784G>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.981G>C	10.37:g.95791784G>C	ENSP00000360431:p.Arg327Ser					PLCE1_ENST00000371380.2_Missense_Mutation_p.R327S	p.R327S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	1615	+		Colorectal(252;0.0458)	327					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.981G>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227421	0.58668	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.71698	-0.59;-0.59	5.14	-0.8	0.10897	Ras guanine nucleotide exchange factor, domain (1);	0.188267	0.30723	N	0.009001	T	0.71195	0.3311	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.69450	-0.5142	10	0.87932	D	0	.	11.5623	0.50785	0.8408:0.0:0.1592:0.0	.	327;327	B7ZM61;Q9P212	.;PLCE1_HUMAN	S	327	ENSP00000260766:R327S;ENSP00000360431:R327S	ENSP00000260766:R327S	R	+	3	2	PLCE1	95781774	0.972000	0.33761	0.985000	0.45067	0.983000	0.72400	0.072000	0.14617	-0.387000	0.07809	-0.137000	0.14449	AGG		0.403	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		13	60	0	0	0	0.016723	0	13	60				
YWHAE	7531	broad.mit.edu	37	17	1303386	1303386	+	Missense_Mutation	SNP	G	G	C	rs11552915		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:1303386G>C	ENST00000264335.8	-	1	286	c.19C>G	c.(19-21)Ctg>Gtg	p.L7V	YWHAE_ENST00000498643.1_5'UTR|YWHAE_ENST00000571732.1_De_novo_Start_OutOfFrame|YWHAE_ENST00000573026.1_Missense_Mutation_p.L7V|YWHAE_ENST00000575977.1_Missense_Mutation_p.L7V	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	7					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TGGTACACCAGATCCTCTCGA	0.662			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000571732.1				Dom	yes		17	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	Miller-Dieker lissencephaly syndrome	M	"""FAM22a, FAM22B"""		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14								tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide							66.0	64.0	65.0					17																	1303386		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1303386G>C	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.19C>G	17.37:g.1303386G>C	ENSP00000264335:p.Leu7Val					YWHAE_ENST00000264335.8_Missense_Mutation_p.L7V|YWHAE_ENST00000498643.1_5'UTR|YWHAE_ENST00000573026.1_Missense_Mutation_p.L7V|YWHAE_ENST00000575977.1_Missense_Mutation_p.L7V				P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	0	128	-								B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Translation_Start_Site	SNP	ENST00000264335.8	37		CCDS11001.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965798	0.34659	.	.	ENSG00000108953	ENST00000264335	T	0.50548	0.74	4.66	4.66	0.58398	14-3-3 domain (4);	0.209023	0.28252	U	0.016034	T	0.47801	0.1465	M	0.73430	2.235	0.44123	D	0.996908	B	0.09022	0.002	B	0.12156	0.007	T	0.43893	-0.9363	10	0.17369	T	0.5	1.7206	15.0746	0.72066	0.0:0.0:1.0:0.0	rs11552915;rs11552915	7	P62258	1433E_HUMAN	V	7	ENSP00000264335:L7V	ENSP00000264335:L7V	L	-	1	2	YWHAE	1250136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.169000	0.58223	2.426000	0.82243	0.484000	0.47621	CTG		0.662	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		19	99	0	0	0	0.012319	0	19	99				
PLEKHA2	59339	broad.mit.edu	37	8	38810819	38810819	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:38810819G>T	ENST00000420274.1	+	9	941	c.707G>T	c.(706-708)cGa>cTa	p.R236L	PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	236	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)	p.R236L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CACCAGGACCGAGAACCACTG	0.463																																						ENST00000420274.1																			1	Substitution - Missense(1)	p.R236L(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(706-708)cGa>cTa		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2							217.0	208.0	211.0					8																	38810819		1949	4134	6083	SO:0001583	missense	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38810819G>T	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000420274.1:c.707G>T	8.37:g.38810819G>T	ENSP00000393860:p.Arg236Leu					PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR	p.R236L	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		9	941	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	236			PH 2.			Missense_Mutation	SNP	ENST00000420274.1	37	c.707G>T		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278585	0.59758	.	.	ENSG00000169499	ENST00000420274;ENST00000535929	T	0.12569	2.67	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.112988	0.56097	D	0.000033	T	0.16642	0.0400	L	0.45744	1.44	0.39510	D	0.968341	P;P	0.39576	0.679;0.679	B;B	0.42916	0.402;0.402	T	0.00857	-1.1538	10	0.62326	D	0.03	.	10.8469	0.46748	0.0864:0.0:0.9136:0.0	.	236;236	Q9HB19;A8K727	PKHA2_HUMAN;.	L	236;186	ENSP00000393860:R236L	ENSP00000393860:R236L	R	+	2	0	PLEKHA2	38929976	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	3.702000	0.54800	2.778000	0.95560	0.655000	0.94253	CGA		0.463	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021623		87	224	1	0	2.16659e-41	0.014410	2.4347e-41	87	224				
NCDN	23154	broad.mit.edu	37	1	36031042	36031042	+	Silent	SNP	C	C	T	rs543753358		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:36031042C>T	ENST00000373243.2	+	7	2351	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P	NCDN_ENST00000356090.4_Silent_p.P656P|NCDN_ENST00000373253.3_Silent_p.P639P	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	656					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCTGGCCCCCGCTGCCCTGC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		14100	0.001		0.0	False		,,,				2504	0.0					ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1966-1968)ccC>ccT		neurochondrin																																				SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36031042C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1968C>T	1.37:g.36031042C>T						NCDN_ENST00000373253.3_Silent_p.P639P|NCDN_ENST00000356090.4_Silent_p.P656P	p.P656P	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			7	2351	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	656					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1968C>T	CCDS392.1																																																																																				0.682	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		11	20	0	0	0	0.008291	0	11	20				
BPIFB2	80341	broad.mit.edu	37	20	31606867	31606867	+	Splice_Site	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:31606867G>A	ENST00000170150.3	+	10	1050		c.e10-1			NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2							extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GCTGATTTCAGAGGTCGGATG	0.572																																						ENST00000170150.3																			0											c.e10-1		BPI fold containing family B, member 2							142.0	141.0	141.0					20																	31606867		2203	4300	6503	SO:0001630	splice_region_variant	80341					extracellular region	lipid binding	g.chr20:31606867G>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.856-1G>A	20.37:g.31606867G>A								NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			10	1050	+								Q6UWN3|Q6ZME0|Q8NFQ7	Splice_Site	SNP	ENST00000170150.3	37		CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305000	0.60305	.	.	ENSG00000078898	ENST00000170150	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7414	0.57255	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFB2	31070528	0.999000	0.42202	0.970000	0.41538	0.885000	0.51271	4.336000	0.59304	2.443000	0.82685	0.555000	0.69702	.		0.572	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227	Intron	44	83	0	0	0	0.011902	0	44	83				
SACS	26278	broad.mit.edu	37	13	23913048	23913048	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr13:23913048A>C	ENST00000382292.3	-	9	5240	c.4967T>G	c.(4966-4968)gTg>gGg	p.V1656G	SACS_ENST00000382298.3_Missense_Mutation_p.V1656G|SACS_ENST00000402364.1_Missense_Mutation_p.V906G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1656					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTCACTCACTTTTGCTTC	0.398																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4966-4968)gTg>gGg		spastic ataxia of Charlevoix-Saguenay (sacsin)							135.0	126.0	129.0					13																	23913048		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913048A>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4967T>G	13.37:g.23913048A>C	ENSP00000371729:p.Val1656Gly					SACS_ENST00000402364.1_Missense_Mutation_p.V906G|SACS_ENST00000382292.3_Missense_Mutation_p.V1656G	p.V1656G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5555	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1656					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4967T>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	0.660	-0.806046	0.02819	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93426	-3.22;-3.22;-3.22	5.84	5.84	0.93424	ATPase-like, ATP-binding domain (1);	0.432547	0.23286	N	0.049843	D	0.87362	0.6158	N	0.17082	0.46	0.47094	D	0.999314	B	0.12013	0.005	B	0.11329	0.006	T	0.82820	-0.0268	10	0.20046	T	0.44	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	1656	Q9NZJ4	SACS_HUMAN	G	1656;906;1656	ENSP00000371729:V1656G;ENSP00000385844:V906G;ENSP00000371735:V1656G	ENSP00000371729:V1656G	V	-	2	0	SACS	22811048	0.975000	0.34042	1.000000	0.80357	0.031000	0.12232	2.553000	0.45837	2.228000	0.72767	0.533000	0.62120	GTG		0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		16	41	0	0	0	0.004990	0	16	41				
ALLC	55821	broad.mit.edu	37	2	3749215	3749215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:3749215C>T	ENST00000252505.3	+	11	1126	c.964C>T	c.(964-966)Cca>Tca	p.P322S	ALLC_ENST00000471711.1_3'UTR|AC010907.5_ENST00000441632.1_RNA	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	341					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACCACTGCTTCCAGTGACCAA	0.488										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(964-966)Cca>Tca		allantoicase							65.0	64.0	64.0					2																	3749215		1949	4150	6099	SO:0001583	missense	55821						allantoicase activity	g.chr2:3749215C>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.964C>T	2.37:g.3749215C>T	ENSP00000252505:p.Pro322Ser	HNSCC(21;0.051)				ALLC_ENST00000471711.1_3'UTR	p.P322S	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	11	1126	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	341					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.964C>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	C	7.149	0.583357	0.13749	.	.	ENSG00000151360	ENST00000252505	.	.	.	4.53	3.37	0.38596	Allantoicase domain (1);Galactose-binding domain-like (1);	0.117653	0.64402	D	0.000014	T	0.42131	0.1189	L	0.58510	1.815	0.33921	D	0.640918	B	0.30763	0.294	B	0.28305	0.088	T	0.54938	-0.8218	9	0.45353	T	0.12	-12.8194	4.6151	0.12422	0.0:0.7172:0.0:0.2828	.	341	Q8N6M5	ALLC_HUMAN	S	322	.	ENSP00000252505:P322S	P	+	1	0	ALLC	3727090	0.720000	0.27996	0.216000	0.23742	0.004000	0.04260	2.314000	0.43743	2.218000	0.71995	0.655000	0.94253	CCA		0.488	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			6	13	0	0	0	0.001168	0	6	13				
MXRA5	25878	broad.mit.edu	37	X	3241681	3241681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:3241681C>T	ENST00000217939.6	-	5	2199	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(2044-2046)cGc>cAc		matrix-remodelling associated 5							78.0	73.0	74.0					X																	3241681		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241681C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2045G>A	X.37:g.3241681C>T	ENSP00000217939:p.Arg682His						p.R682H	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2199	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	682					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2045G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	4.025	0.002194	0.07819	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65549	-0.16	3.48	0.632	0.17705	.	0.561089	0.14863	N	0.293997	T	0.34919	0.0914	N	0.08118	0	0.20975	N	0.999819	B	0.19331	0.035	B	0.10450	0.005	T	0.16188	-1.0411	10	0.24483	T	0.36	.	6.6189	0.22792	0.0:0.5558:0.0:0.4442	.	682	Q9NR99	MXRA5_HUMAN	H	682	ENSP00000217939:R682H	ENSP00000217939:R682H	R	-	2	0	MXRA5	3251681	0.875000	0.30112	0.004000	0.12327	0.007000	0.05969	-0.070000	0.11523	-0.013000	0.14199	0.529000	0.55759	CGC		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		27	71	0	0	0	0.007291	0	27	71				
LIMS2	55679	broad.mit.edu	37	2	128412466	128412466	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:128412466T>C	ENST00000355119.4	-	3	341	c.176A>G	c.(175-177)gAa>gGa	p.E59G	LIMS2_ENST00000545738.2_Missense_Mutation_p.E81G|LIMS2_ENST00000410011.1_Missense_Mutation_p.E54G|LIMS2_ENST00000409455.1_Missense_Mutation_p.E54G|LIMS2_ENST00000324938.5_Missense_Mutation_p.E83G|LIMS2_ENST00000409808.2_Missense_Mutation_p.E54G	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	59	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTTCCGGCCTTCAAACTGCAA	0.582																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(160-162)gAa>gGa		LIM and senescent cell antigen-like domains 2							82.0	68.0	73.0					2																	128412466		2203	4300	6503	SO:0001583	missense	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128412466T>C	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.176A>G	2.37:g.128412466T>C	ENSP00000347240:p.Glu59Gly					LIMS2_ENST00000324938.5_Missense_Mutation_p.E83G|LIMS2_ENST00000409808.2_Missense_Mutation_p.E54G|LIMS2_ENST00000355119.4_Missense_Mutation_p.E59G|LIMS2_ENST00000410011.1_Missense_Mutation_p.E54G|LIMS2_ENST00000545738.2_Missense_Mutation_p.E81G	p.E54G			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	3	796	-	Colorectal(110;0.1)		59			LIM zinc-binding 1.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	c.161A>G	CCDS54395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	28.8|28.8	4.953937|4.953937	0.92660|0.92660	.|.	.|.	ENSG00000072163|ENSG00000144230	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034|ENST00000339805	D;D;D;D;D;D|.	0.89415|.	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Zinc finger, LIM-type (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77384|0.77384	0.4122|0.4122	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	B;D;D|.	0.67145|.	0.317;0.99;0.996|.	B;P;D|.	0.75484|.	0.267;0.87;0.986|.	T|T	0.81348|0.81348	-0.0973|-0.0973	10|6	0.87932|0.87932	D|D	0|0	.|.	15.2502|15.2502	0.73539|0.73539	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	81;59;83|.	F5H6E6;Q7Z4I7;Q7Z4I7-2|.	.;LIMS2_HUMAN;.|.	G|S	81;59;83;54;54;54;54;81;54|75	ENSP00000443794:E81G;ENSP00000347240:E59G;ENSP00000326888:E83G;ENSP00000386383:E54G;ENSP00000386637:E54G;ENSP00000387002:E54G|.	ENSP00000326888:E83G|ENSP00000345388:F75S	E|F	-|+	2|2	0|0	LIMS2|GPR17	128128936|128128936	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	7.883000|7.883000	0.87264|0.87264	2.082000|2.082000	0.62665|0.62665	0.459000|0.459000	0.35465|0.35465	GAA|TTC		0.582	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		3	23	0	0	0	0.004672	0	3	23				
KCTD2	23510	broad.mit.edu	37	17	73049121	73049121	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:73049121A>T	ENST00000322444.6	+	3	467	c.461A>T	c.(460-462)gAa>gTa	p.E154V	KCTD2_ENST00000581589.1_De_novo_Start_OutOfFrame	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	154	BTB.				protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					GTGCTGGAGGAAGCGGAGTTT	0.463																																						ENST00000581589.1																			0				kidney(1)|lung(2)	3								potassium channel tetramerization domain containing 2							126.0	107.0	113.0					17																	73049121		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73049121A>T	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.461A>T	17.37:g.73049121A>T	ENSP00000312814:p.Glu154Val					KCTD2_ENST00000322444.6_Missense_Mutation_p.E154V				Q14681	KCTD2_HUMAN			0	446	+	all_lung(278;0.226)								Translation_Start_Site	SNP	ENST00000322444.6	37		CCDS32728.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661191	0.88154	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	D	0.87179	-2.22	5.61	5.61	0.85477	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.105146	0.64402	D	0.000005	D	0.94778	0.8314	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95592	0.8655	10	0.62326	D	0.03	.	15.7934	0.78384	1.0:0.0:0.0:0.0	.	154	Q14681	KCTD2_HUMAN	V	154;136	ENSP00000312814:E154V	ENSP00000312814:E154V	E	+	2	0	KCTD2	70560716	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.228000	0.95250	2.127000	0.65507	0.533000	0.62120	GAA		0.463	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			20	21	0	0	0	0.012319	0	20	21				
FOLH1	2346	broad.mit.edu	37	11	49229949	49229949	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:49229949G>A	ENST00000256999.2	-	1	273	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000533034.1_5'Flank|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.L5F	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	5					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GTTTCGTGAAGGAGATTCCAC	0.701																																						ENST00000256999.2																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(13-15)Ctt>Ttt		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						9.0	12.0	11.0					11																	49229949		2183	4260	6443	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49229949G>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.13C>T	11.37:g.49229949G>A	ENSP00000256999:p.Leu5Phe					FOLH1_ENST00000356696.3_Missense_Mutation_p.L5F|FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000343844.4_5'UTR	p.L5F	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN			1	273	-			5					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.13C>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125207	0.56721	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000389724	T;T	0.39592	1.07;1.1	4.19	2.27	0.28462	.	1.397640	0.05374	U	0.536016	T	0.35393	0.0930	N	0.08118	0	0.18873	N	0.999987	P;D	0.57257	0.946;0.979	P;P	0.55222	0.649;0.771	T	0.26710	-1.0095	10	0.46703	T	0.11	.	5.0821	0.14663	0.1078:0.0:0.6867:0.2055	.	5;5	Q04609-8;Q04609	.;FOLH1_HUMAN	F	5	ENSP00000256999:L5F;ENSP00000349129:L5F	ENSP00000256999:L5F	L	-	1	0	FOLH1	49186525	0.032000	0.19561	0.001000	0.08648	0.001000	0.01503	1.761000	0.38440	0.518000	0.28383	-0.218000	0.12543	CTT		0.701	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		3	9	0	0	0	0.004672	0	3	9				
MYH11	4629	broad.mit.edu	37	16	15832485	15832485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:15832485C>T	ENST00000300036.5	-	24	3167	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	MYH11_ENST00000396324.3_Missense_Mutation_p.E1027K|MYH11_ENST00000576790.2_Missense_Mutation_p.E1020K|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.E1027K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1020					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGGCCTTTTCTTCCTCTTCT	0.358			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(3058-3060)Gaa>Aaa		myosin, heavy chain 11, smooth muscle							165.0	153.0	157.0					16																	15832485		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15832485C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3058G>A	16.37:g.15832485C>T	ENSP00000300036:p.Glu1020Lys					MYH11_ENST00000576790.1_Missense_Mutation_p.E1020K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1020K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1027K|MYH11_ENST00000452625.2_Missense_Mutation_p.E1027K	p.E1020K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			24	3164	-			1020					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3058G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863339	0.91511	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	4.3	4.3	0.51218	.	0.124722	0.53938	D	0.000050	D	0.92257	0.7544	M	0.79926	2.475	0.80722	D	1	P;B;B;B;B	0.41643	0.758;0.082;0.082;0.082;0.198	P;B;B;B;B	0.49451	0.611;0.26;0.26;0.26;0.362	D	0.93769	0.7073	10	0.87932	D	0	.	16.1203	0.81346	0.0:1.0:0.0:0.0	.	1027;1020;1027;1020;1027	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1020;1020;1027;1027;1027	ENSP00000300036:E1020K;ENSP00000345136:E1020K;ENSP00000379616:E1027K;ENSP00000407821:E1027K	ENSP00000300036:E1020K	E	-	1	0	MYH11	15739986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.117000	0.64856	0.555000	0.69702	GAA		0.358	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		12	71	0	0	0	0.016723	0	12	71				
FLT4	2324	broad.mit.edu	37	5	180047255	180047255	+	Silent	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:180047255C>A	ENST00000261937.6	-	17	2538	c.2460G>T	c.(2458-2460)ggG>ggT	p.G820G	FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G|FLT4_ENST00000424276.2_5'Flank	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	820					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGCACCTCCCCGGGGTCCA	0.652																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2458-2460)ggG>ggT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						79.0	83.0	81.0					5																	180047255		2203	4300	6503	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180047255C>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2460G>T	5.37:g.180047255C>A						FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G	p.G820G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	17	2538	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	820					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2460G>T	CCDS4457.1																																																																																				0.652	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			49	48	1	0	1.86277e-20	0.014410	2.07937e-20	49	48				
SIX6	4990	broad.mit.edu	37	14	60976681	60976681	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:60976681A>T	ENST00000327720.5	+	1	1013	c.565A>T	c.(565-567)Aag>Tag	p.K189*		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	189					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGCTGCAGCCAAGAACAGGTC	0.647																																						ENST00000327720.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11						c.(565-567)Aag>Tag		SIX homeobox 6							12.0	13.0	13.0					14																	60976681		2196	4291	6487	SO:0001587	stop_gained	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60976681A>T	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.565A>T	14.37:g.60976681A>T	ENSP00000328596:p.Lys189*						p.K189*	NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	1	1013	+			189					Q6NT42|Q9P1X8	Nonsense_Mutation	SNP	ENST00000327720.5	37	c.565A>T	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	A	41	8.846025	0.98976	.	.	ENSG00000184302	ENST00000327720	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9764	0.71277	1.0:0.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000328596:K189X	K	+	1	0	SIX6	60046434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.317000	0.78254	0.460000	0.39030	AAG		0.647	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			6	12	0	0	0	0.001168	0	6	12				
SLC19A1	6573	broad.mit.edu	37	21	46957703	46957703	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr21:46957703C>T	ENST00000311124.4	-	2	323	c.171G>A	c.(169-171)aaG>aaA	p.K57K	SLC19A1_ENST00000567670.1_Silent_p.K57K|SLC19A1_ENST00000380010.4_Silent_p.K57K	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	57					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GCGTGAAGTTCTTGTCGGGCC	0.687																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(169-171)aaG>aaA		solute carrier family 19 (folate transporter), member 1							24.0	18.0	20.0					21																	46957703		2196	4288	6484	SO:0001819	synonymous_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46957703C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.171G>A	21.37:g.46957703C>T						SLC19A1_ENST00000567670.1_Silent_p.K57K|SLC19A1_ENST00000380010.4_Silent_p.K57K	p.K57K	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	2	323	-			57					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.171G>A	CCDS13725.1																																																																																				0.687	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			7	7	0	0	0	0.001984	0	7	7				
BCAS1	8537	broad.mit.edu	37	20	52609131	52609131	+	Intron	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:52609131T>A	ENST00000395961.3	-	6	1094				BCAS1_ENST00000434986.2_Missense_Mutation_p.I41F|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.I328F	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTAGCCTGGATCTCGGATGTC	0.453																																						ENST00000371440.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(982-984)Atc>Ttc		breast carcinoma amplified sequence 1							71.0	62.0	65.0					20																	52609131		876	1991	2867	SO:0001627	intron_variant	8537					cytoplasm	protein binding	g.chr20:52609131T>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.927+2419A>T	20.37:g.52609131T>A						BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000395961.3_Intron|BCAS1_ENST00000434986.2_Missense_Mutation_p.I41F	p.I328F			O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		7	1319	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		309					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.982A>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	T	8.969	0.972451	0.18736	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000434986	T;T;T	0.08370	3.1;3.1;3.1	5.7	-0.73	0.11154	.	.	.	.	.	T	0.06188	0.0160	.	.	.	0.09310	N	0.999999	B;B	0.33135	0.372;0.399	B;B	0.31751	0.061;0.135	T	0.35251	-0.9796	8	0.51188	T	0.08	3.1899	6.0671	0.19870	0.1598:0.5058:0.0:0.3344	.	41;328	B4DFL4;O75363-2	.;.	F	190;328;41	ENSP00000396361:I190F;ENSP00000360495:I328F;ENSP00000409956:I41F	ENSP00000360495:I328F	I	-	1	0	BCAS1	52042538	0.034000	0.19679	0.002000	0.10522	0.205000	0.24178	0.080000	0.14802	-0.100000	0.12241	-0.250000	0.11733	ATC		0.453	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		8	36	0	0	0	0.003080	0	8	36				
DTX1	1840	broad.mit.edu	37	12	113496163	113496163	+	Missense_Mutation	SNP	G	G	A	rs200220437		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:113496163G>A	ENST00000257600.3	+	1	669	c.166G>A	c.(166-168)Gct>Act	p.A56T		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	56	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGGAGGACGCTCGCGGTTC	0.647																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(166-168)Gct>Act		deltex homolog 1 (Drosophila)							125.0	110.0	115.0					12																	113496163		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496163G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.166G>A	12.37:g.113496163G>A	ENSP00000257600:p.Ala56Thr						p.A56T	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	669	+			56			WWE 1.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.166G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490500	0.64074	.	.	ENSG00000135144	ENST00000257600	T	0.42131	0.98	3.9	3.9	0.45041	WWE domain (2);WWE domain, subgroup (1);	0.077372	0.50627	U	0.000117	T	0.33352	0.0860	L	0.40543	1.245	0.36731	D	0.881706	P	0.51653	0.947	B	0.40702	0.338	T	0.38222	-0.9671	10	0.23891	T	0.37	-12.5667	14.8783	0.70513	0.0:0.0:1.0:0.0	.	56	Q86Y01	DTX1_HUMAN	T	56	ENSP00000257600:A56T	ENSP00000257600:A56T	A	+	1	0	DTX1	111980546	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.515000	0.45512	2.021000	0.59480	0.555000	0.69702	GCT		0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			35	89	0	0	0	0.015359	0	35	89				
IRX1	79192	broad.mit.edu	37	5	3600291	3600291	+	Missense_Mutation	SNP	C	C	G	rs372921884		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:3600291C>G	ENST00000302006.3	+	2	1281	c.1229C>G	c.(1228-1230)cCa>cGa	p.P410R	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	410	Poly-Pro.				proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTGCACCTCCACCACCGCAG	0.701																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1228-1230)cCa>cGa		iroquois homeobox 1							25.0	29.0	28.0					5																	3600291		2203	4299	6502	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600291C>G	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1229C>G	5.37:g.3600291C>G	ENSP00000305244:p.Pro410Arg					CTD-2012M11.3_ENST00000559410.1_RNA	p.P410R	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	1281	+			410			Poly-Pro.		Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1229C>G	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	4.722	0.134316	0.09032	.	.	ENSG00000170549	ENST00000302006	T	0.56103	0.48	4.03	3.04	0.35103	.	0.736785	0.12831	U	0.435612	T	0.29914	0.0748	N	0.08118	0	0.30407	N	0.779459	B	0.30068	0.267	B	0.30495	0.116	T	0.22452	-1.0216	10	0.22706	T	0.39	.	9.0072	0.36120	0.545:0.455:0.0:0.0	.	410	P78414	IRX1_HUMAN	R	410	ENSP00000305244:P410R	ENSP00000305244:P410R	P	+	2	0	IRX1	3653291	0.041000	0.20044	0.018000	0.16275	0.232000	0.25224	2.463000	0.45058	1.762000	0.52044	0.313000	0.20887	CCA		0.701	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		15	69	0	0	0	0.003163	0	15	69				
LDHC	3948	broad.mit.edu	37	11	18456337	18456337	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:18456337C>T	ENST00000541669.1	+	5	580	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	LDHC_ENST00000535809.1_Missense_Mutation_p.R157C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000280704.4_Missense_Mutation_p.R157C|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000537486.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	157					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCTGTAACTCGTGTAATTGG	0.368																																						ENST00000541669.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(469-471)Cgt>Tgt		lactate dehydrogenase C	NADH(DB00157)						179.0	178.0	178.0					11																	18456337		2199	4293	6492	SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18456337C>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.469C>T	11.37:g.18456337C>T	ENSP00000437783:p.Arg157Cys					LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Missense_Mutation_p.R157C|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000280704.4_Missense_Mutation_p.R157C	p.R157C			P07864	LDHC_HUMAN			5	580	+			157					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	ENST00000541669.1	37	c.469C>T	CCDS7840.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527764	0.27299	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000544105;ENST00000535809	D;D;D;D;D;D	0.92299	-2.73;-2.73;-3.01;-2.73;-2.73;-2.73	4.67	1.72	0.24424	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.179564	0.50627	D	0.000104	D	0.93090	0.7800	H	0.98256	4.185	0.80722	D	1	B;P;P	0.49559	0.036;0.925;0.688	B;B;B	0.36534	0.002;0.227;0.097	D	0.90728	0.4640	10	0.62326	D	0.03	-6.3129	8.7069	0.34360	0.2674:0.6608:0.0:0.0718	.	157;157;157	F5H155;G3XAP5;P07864	.;.;LDHC_HUMAN	C	157;157;99;143;157;157	ENSP00000437783:R157C;ENSP00000280704:R157C;ENSP00000443414:R99C;ENSP00000439555:R143C;ENSP00000439060:R157C;ENSP00000443997:R157C	ENSP00000280704:R157C	R	+	1	0	LDHC	18412913	0.998000	0.40836	0.423000	0.26634	0.463000	0.32649	3.121000	0.50438	0.195000	0.20347	-0.899000	0.02877	CGT		0.368	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		40	75	0	0	0	0.006999	0	40	75				
ME2	4200	broad.mit.edu	37	18	48447048	48447048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:48447048C>G	ENST00000321341.5	+	9	1134	c.862C>G	c.(862-864)Cta>Gta	p.L288V	ME2_ENST00000382927.3_Missense_Mutation_p.L288V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	288					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TGCAGTAGCTCTAGCAGGTCT	0.348																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(862-864)Cta>Gta		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						61.0	64.0	63.0					18																	48447048		2203	4296	6499	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48447048C>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.862C>G	18.37:g.48447048C>G	ENSP00000321070:p.Leu288Val					ME2_ENST00000382927.3_Missense_Mutation_p.L288V	p.L288V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	9	1134	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	288					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.862C>G	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133958	0.09032	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.34472	1.36;1.36	5.73	1.9	0.25705	Malic enzyme, conserved site (1);Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.33137	0.985	0.48288	D	0.999626	B;B	0.14012	0.003;0.009	B;B	0.25405	0.06;0.03	T	0.16897	-1.0387	10	0.02654	T	1	-15.6398	9.7916	0.40708	0.0:0.6438:0.0:0.3562	.	288;288	Q9BWL6;P23368	.;MAOM_HUMAN	V	288	ENSP00000321070:L288V;ENSP00000372384:L288V	ENSP00000321070:L288V	L	+	1	2	ME2	46701046	0.003000	0.15002	0.791000	0.31998	0.904000	0.53231	0.072000	0.14617	0.061000	0.16311	0.637000	0.83480	CTA		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		40	50	0	0	0	0.009718	0	40	50				
ELAVL4	1996	broad.mit.edu	37	1	50610702	50610702	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:50610702A>G	ENST00000371823.4	+	2	307	c.83A>G	c.(82-84)aAc>aGc	p.N28S	ELAVL4_ENST00000371827.1_Missense_Mutation_p.N28S|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371819.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371824.1_Missense_Mutation_p.N28S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.N31S|ELAVL4_ENST00000357083.4_Missense_Mutation_p.N45S	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	28					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCCAGCAACAACAGAAACTGT	0.418																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(82-84)aAc>aGc		ELAV like neuron-specific RNA binding protein 4							97.0	85.0	89.0					1																	50610702		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50610702A>G	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.83A>G	1.37:g.50610702A>G	ENSP00000360888:p.Asn28Ser					ELAVL4_ENST00000357083.4_Missense_Mutation_p.N45S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.N28S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.N28S|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000448907.2_Missense_Mutation_p.N31S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.N33S	p.N28S			P26378	ELAV4_HUMAN			2	340	+			28					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.83A>G	CCDS553.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621687	0.28889	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	6.16	3.83	0.44106	Nucleotide-binding, alpha-beta plait (1);	0.117133	0.85682	D	0.000000	T	0.16854	0.0405	N	0.12182	0.205	0.41997	D	0.990879	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B	0.08055	0.001;0.001;0.002;0.0;0.001;0.003;0.001	T	0.07712	-1.0758	10	0.22706	T	0.39	.	4.6399	0.12543	0.593:0.0:0.407:0.0	.	33;33;28;28;45;28;31	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	S	31;28;45;28;28;33;33	ENSP00000399939:N31S;ENSP00000360892:N28S;ENSP00000349594:N45S;ENSP00000360889:N28S;ENSP00000360888:N28S;ENSP00000360886:N33S;ENSP00000360884:N33S	ENSP00000349594:N45S	N	+	2	0	ELAVL4	50383289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.843000	0.48238	1.141000	0.42275	0.528000	0.53228	AAC		0.418	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		12	25	0	0	0	0.010729	0	12	25				
ONECUT2	9480	broad.mit.edu	37	18	55143901	55143901	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:55143901C>T	ENST00000491143.2	+	2	1493	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	487					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGTGGCAAGACGATCTGAGCA	0.572																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(1459-1461)gaC>gaT		one cut homeobox 2							35.0	39.0	38.0					18																	55143901		2073	4228	6301	SO:0001819	synonymous_variant	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55143901C>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1461C>T	18.37:g.55143901C>T							p.D487D	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	2	1493	+		Colorectal(73;0.234)	487						Silent	SNP	ENST00000491143.2	37	c.1461C>T	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	C	3.529	-0.096191	0.07010	.	.	ENSG00000119547	ENST00000481727	.	.	.	5.9	-3.78	0.04333	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.3136	10.2545	0.43388	0.0924:0.2908:0.0:0.6168	.	.	.	.	X	116	.	.	R	+	1	2	ONECUT2	53294899	0.000000	0.05858	0.759000	0.31340	0.666000	0.39218	-2.348000	0.01094	-1.253000	0.02488	-1.899000	0.00529	CGA		0.572	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			7	35	0	0	0	0.003080	0	7	35				
KIF26B	55083	broad.mit.edu	37	1	245772637	245772637	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:245772637C>G	ENST00000407071.2	+	8	2161	c.1721C>G	c.(1720-1722)tCt>tGt	p.S574C	KIF26B_ENST00000366518.4_Missense_Mutation_p.S193C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	574	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGCCATCTCTTGGCTCTTC	0.537																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(577-579)tCt>tGt		kinesin family member 26B							40.0	40.0	40.0					1																	245772637		1924	4130	6054	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245772637C>G	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1721C>G	1.37:g.245772637C>G	ENSP00000385545:p.Ser574Cys					KIF26B_ENST00000407071.2_Missense_Mutation_p.S574C	p.S193C			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		5	682	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		574					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.578C>G	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675000	0.67928	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76060	-0.99;-0.99	5.07	5.07	0.68467	Kinesin, motor domain (4);	.	.	.	.	D	0.86468	0.5940	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.87966	0.2733	9	0.87932	D	0	.	18.8152	0.92075	0.0:1.0:0.0:0.0	.	193;574	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	574;193;190	ENSP00000385545:S574C;ENSP00000355475:S193C	ENSP00000355475:S193C	S	+	2	0	KIF26B	243839260	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.776000	0.85560	2.520000	0.84964	0.650000	0.86243	TCT		0.537	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		5	12	0	0	0	0.014758	0	5	12				
SHROOM3	57619	broad.mit.edu	37	4	77675521	77675521	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:77675521C>T	ENST00000296043.6	+	7	4838	c.3885C>T	c.(3883-3885)ctC>ctT	p.L1295L	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1295					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCACCATCTCACCCCTCGTT	0.542																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3883-3885)ctC>ctT		shroom family member 3							141.0	137.0	138.0					4																	77675521		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77675521C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.3885C>T	4.37:g.77675521C>T							p.L1295L	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	4838	+			1295					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.3885C>T	CCDS3579.2																																																																																				0.542	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		41	133	0	0	0	0.007835	0	41	133				
SLC7A6OS	84138	broad.mit.edu	37	16	68344297	68344297	+	Silent	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:68344297A>G	ENST00000263997.6	-	2	430	c.412T>C	c.(412-414)Ttg>Ctg	p.L138L	PRMT7_ENST00000441236.1_5'Flank|snoU13_ENST00000458872.1_RNA|PRMT7_ENST00000449359.3_5'Flank|PRMT7_ENST00000348497.4_5'Flank|PRMT7_ENST00000339507.5_5'Flank	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	138					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AGGTCTAACAACTGAAAGCCC	0.627																																						ENST00000263997.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(412-414)Ttg>Ctg		solute carrier family 7, member 6 opposite strand							21.0	21.0	21.0					16																	68344297		2198	4300	6498	SO:0001819	synonymous_variant	84138				protein transport	cytoplasm|nucleus		g.chr16:68344297A>G		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.412T>C	16.37:g.68344297A>G							p.L138L	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)	2	430	-		Ovarian(137;0.192)	138					Q8TCZ3|Q9H8R8	Silent	SNP	ENST00000263997.6	37	c.412T>C	CCDS10865.1																																																																																				0.627	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		10	12	0	0	0	0.006214	0	10	12				
UNC13B	10497	broad.mit.edu	37	9	35385812	35385812	+	Splice_Site	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:35385812T>C	ENST00000378495.3	+	22	2940		c.e22+2		UNC13B_ENST00000378496.4_Splice_Site|UNC13B_ENST00000396787.1_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGAATGAAGGTAAGAAATGGA	0.483																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.e22+2		unc-13 homolog B (C. elegans)							67.0	68.0	68.0					9																	35385812		2203	4300	6503	SO:0001630	splice_region_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35385812T>C	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2718+2T>C	9.37:g.35385812T>C						UNC13B_ENST00000396787.1_Splice_Site|UNC13B_ENST00000378496.4_Splice_Site		NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		22	2940	+	all_epithelial(49;0.212)							Q5VYM8	Splice_Site	SNP	ENST00000378495.3	37		CCDS6579.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816838	0.90790	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3729	0.74581	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC13B	35375812	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.166000	0.71896	2.088000	0.63022	0.533000	0.62120	.		0.483	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	Intron	27	97	0	0	0	0.006320	0	27	97				
DCAF15	90379	broad.mit.edu	37	19	14070284	14070284	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:14070284G>A	ENST00000254337.6	+	7	1233	c.1212G>A	c.(1210-1212)ccG>ccA	p.P404P		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	404					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GGACGGAGCCGGAGGATGGTG	0.687																																						ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1210-1212)ccG>ccA		DDB1 and CUL4 associated factor 15							27.0	34.0	31.0					19																	14070284		2197	4285	6482	SO:0001819	synonymous_variant	90379							g.chr19:14070284G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1212G>A	19.37:g.14070284G>A							p.P404P	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			7	1233	+			404					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.1212G>A	CCDS32926.1																																																																																				0.687	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		25	49	0	0	0	0.016522	0	25	49				
LRP1	4035	broad.mit.edu	37	12	57538855	57538855	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:57538855G>A	ENST00000243077.3	+	5	1015	c.549G>A	c.(547-549)ccG>ccA	p.P183P	RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000554174.1_Silent_p.P183P|RP11-545N8.3_ENST00000554476.1_RNA|LRP1_ENST00000338962.4_Silent_p.P183P|LRP1_ENST00000553277.1_Silent_p.P183P	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	183	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTGCAGCCGGATAACCGCT	0.572																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(547-549)ccG>ccA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						63.0	54.0	57.0					12																	57538855		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57538855G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.549G>A	12.37:g.57538855G>A						RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000338962.4_Silent_p.P183P|LRP1_ENST00000554174.1_Silent_p.P183P|LRP1_ENST00000553277.1_Silent_p.P183P	p.P183P	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	5	1015	+			183			EGF-like 2; calcium-binding (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.549G>A	CCDS8932.1																																																																																				0.572	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		17	31	0	0	0	0.004007	0	17	31				
ZNF449	203523	broad.mit.edu	37	X	134494925	134494925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:134494925C>T	ENST00000339249.4	+	5	1621	c.1481C>T	c.(1480-1482)aCt>aTt	p.T494I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	494					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACAAGTGTACTCATTGTTCT	0.393																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(1480-1482)aCt>aTt		zinc finger protein 449							148.0	146.0	147.0					X																	134494925		2203	4299	6502	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494925C>T	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1481C>T	X.37:g.134494925C>T	ENSP00000339585:p.Thr494Ile						p.T494I	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			5	1621	+	Acute lymphoblastic leukemia(192;6.56e-05)		494					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.1481C>T	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223338	0.22457	.	.	ENSG00000173275	ENST00000339249	T	0.18338	2.22	4.55	2.7	0.31948	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.264596	0.27000	N	0.021439	T	0.12902	0.0313	L	0.35487	1.065	0.80722	D	1	B	0.33044	0.395	B	0.35813	0.211	T	0.07849	-1.0751	10	0.87932	D	0	.	6.236	0.20764	0.1108:0.4252:0.464:0.0	.	494	Q6P9G9	ZN449_HUMAN	I	494	ENSP00000339585:T494I	ENSP00000339585:T494I	T	+	2	0	ZNF449	134322591	0.000000	0.05858	0.996000	0.52242	0.979000	0.70002	-0.322000	0.08007	0.457000	0.26962	0.529000	0.55759	ACT		0.393	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		92	135	0	0	0	0.014410	0	92	135				
TRIO	7204	broad.mit.edu	37	5	14406048	14406048	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:14406048A>G	ENST00000344204.4	+	32	4832	c.4808A>G	c.(4807-4809)gAg>gGg	p.E1603G	TRIO_ENST00000537187.1_Missense_Mutation_p.E1603G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1603					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCCTGAAGGAGCCCATTCAC	0.577																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(4807-4809)gAg>gGg		trio Rho guanine nucleotide exchange factor							51.0	47.0	48.0					5																	14406048		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14406048A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4808A>G	5.37:g.14406048A>G	ENSP00000339299:p.Glu1603Gly					TRIO_ENST00000537187.1_Missense_Mutation_p.E1603G	p.E1603G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			32	4832	+	Lung NSC(4;0.000742)		1603					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.4808A>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075012	0.76415	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.21361	2.01;2.01	5.32	5.32	0.75619	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	L	0.44542	1.39	0.58432	D	0.999997	B;D	0.57899	0.13;0.981	B;D	0.67900	0.098;0.954	T	0.05903	-1.0857	10	0.45353	T	0.12	.	15.299	0.73931	1.0:0.0:0.0:0.0	.	1603;1603	O75962-5;O75962	.;TRIO_HUMAN	G	1603;1603;1290	ENSP00000339299:E1603G;ENSP00000446348:E1603G	ENSP00000339299:E1603G	E	+	2	0	TRIO	14459048	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.263000	0.95617	2.011000	0.59026	0.528000	0.53228	GAG		0.577	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		10	25	0	0	0	0.006214	0	10	25				
PITPNM1	9600	broad.mit.edu	37	11	67267280	67267280	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:67267280T>C	ENST00000534749.1	-	7	1273	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E362G|PITPNM1_ENST00000356404.3_Missense_Mutation_p.E362G			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	362					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGAAGACCTCCTCACTGTC	0.592																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(1084-1086)gAg>gGg		phosphatidylinositol transfer protein, membrane-associated 1							104.0	99.0	101.0					11																	67267280		2196	4286	6482	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67267280T>C	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1085A>G	11.37:g.67267280T>C	ENSP00000437286:p.Glu362Gly					PITPNM1_ENST00000436757.2_Missense_Mutation_p.E362G|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E362G	p.E362G	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			8	1310	-			362					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.1085A>G	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	t	16.34	3.096695	0.56075	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.48836	0.8;0.8;0.8	3.8	3.8	0.43715	.	0.000000	0.56097	D	0.000037	T	0.55673	0.1935	L	0.49126	1.545	0.47819	D	0.999529	P;P	0.48640	0.913;0.859	P;P	0.57548	0.823;0.67	T	0.55016	-0.8206	10	0.41790	T	0.15	-29.5997	12.4015	0.55416	0.0:0.0:0.0:1.0	.	362;362	O00562-2;O00562	.;PITM1_HUMAN	G	362	ENSP00000437286:E362G;ENSP00000398787:E362G;ENSP00000348772:E362G	ENSP00000348772:E362G	E	-	2	0	PITPNM1	67023856	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.681000	0.84073	1.960000	0.56953	0.524000	0.50904	GAG		0.592	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		10	121	0	0	0	0.008291	0	10	121				
ZNF513	130557	broad.mit.edu	37	2	27601470	27601470	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:27601470C>T	ENST00000323703.6	-	3	861	c.663G>A	c.(661-663)ctG>ctA	p.L221L	ZNF513_ENST00000407879.1_Silent_p.L159L|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	221					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCGCCTCAGGTTGCCCA	0.682																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(661-663)ctG>ctA		zinc finger protein 513							91.0	79.0	83.0					2																	27601470		2203	4300	6503	SO:0001819	synonymous_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27601470C>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.663G>A	2.37:g.27601470C>T						ZNF513_ENST00000407879.1_Silent_p.L159L|ZNF513_ENST00000491924.1_5'UTR	p.L221L	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			3	861	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		221					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	c.663G>A	CCDS1751.1																																																																																				0.682	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		15	46	0	0	0	0.004007	0	15	46				
AP3B2	8120	broad.mit.edu	37	15	83335612	83335612	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:83335612C>T	ENST00000261722.3	-	15	1946	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R580H|AP3B2_ENST00000535348.1_Missense_Mutation_p.R548H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	580					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCGGGTGAAGCGCGCCCGGTC	0.597																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1738-1740)cGc>cAc		adaptor-related protein complex 3, beta 2 subunit							64.0	72.0	69.0					15																	83335612		1954	4131	6085	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83335612C>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1739G>A	15.37:g.83335612C>T	ENSP00000261722:p.Arg580His					RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R580H|AP3B2_ENST00000535348.1_Missense_Mutation_p.R548H	p.R580H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		15	1946	-			580					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1739G>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	33	5.222526	0.95139	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.27890	1.64;1.64;1.64	5.84	4.92	0.64577	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.90252	3.1	0.80722	D	1	B;D;D	0.89917	0.302;1.0;1.0	B;D;D	0.97110	0.066;1.0;0.999	T	0.71866	-0.4463	10	0.62326	D	0.03	-16.9405	15.1021	0.72288	0.0:0.932:0.0:0.068	.	548;580;580	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	H	580;548;580	ENSP00000261722:R580H;ENSP00000438721:R548H;ENSP00000440984:R580H	ENSP00000261722:R580H	R	-	2	0	AP3B2	81132667	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	7.794000	0.85869	1.475000	0.48197	0.655000	0.94253	CGC		0.597	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			17	66	0	0	0	0.006122	0	17	66				
TAS2R16	50833	broad.mit.edu	37	7	122635216	122635216	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:122635216T>C	ENST00000249284.2	-	1	538	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	158					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGTAGATGCTCCATGGTGAG	0.383																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(472-474)gAg>gGg		taste receptor, type 2, member 16							163.0	152.0	156.0					7																	122635216		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635216T>C	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.473A>G	7.37:g.122635216T>C	ENSP00000249284:p.Glu158Gly						p.E158G	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	538	-			158					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.473A>G	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	T	5.896	0.349392	0.11182	.	.	ENSG00000128519	ENST00000249284	T	0.37058	1.22	4.56	-9.11	0.00711	.	2.716310	0.01647	N	0.024383	T	0.18635	0.0447	N	0.20685	0.6	0.09310	N	1	B	0.16603	0.018	B	0.19666	0.026	T	0.12451	-1.0547	10	0.29301	T	0.29	.	3.0104	0.06043	0.1037:0.4019:0.2739:0.2205	.	158	Q9NYV7	T2R16_HUMAN	G	158	ENSP00000249284:E158G	ENSP00000249284:E158G	E	-	2	0	TAS2R16	122422452	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.561000	0.00921	-3.144000	0.00232	-0.256000	0.11100	GAG		0.383	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		13	46	0	0	0	0.016723	0	13	46				
NIN	51199	broad.mit.edu	37	14	51224285	51224285	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:51224285G>A	ENST00000382041.3	-	18	3653	c.3463C>T	c.(3463-3465)Ctg>Ttg	p.L1155L	NIN_ENST00000530997.2_Silent_p.L1155L|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Silent_p.L1155L|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Silent_p.L1155L|NIN_ENST00000245441.5_Silent_p.L1155L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1155					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTACTTCCCAGGTCCCGGACC	0.478			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(3463-3465)Ctg>Ttg		ninein (GSK3B interacting protein)							137.0	136.0	136.0					14																	51224285		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224285G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3463C>T	14.37:g.51224285G>A						NIN_ENST00000324330.9_Silent_p.L1155L|NIN_ENST00000453196.1_Silent_p.L1155L|NIN_ENST00000530997.2_Silent_p.L1155L|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Silent_p.L1155L	p.L1155L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	3653	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1155					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.3463C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.586833	0.00872	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.78	2.59	0.31030	.	.	.	.	.	T	0.32675	0.0837	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20773	-1.0265	4	.	.	.	0.1681	6.6411	0.22909	0.0717:0.2563:0.5547:0.1173	.	.	.	.	L	645	.	.	P	-	2	0	NIN	50294035	0.002000	0.14202	0.001000	0.08648	0.160000	0.22226	0.518000	0.22847	0.713000	0.32060	0.563000	0.77884	CCT		0.478	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		23	208	0	0	0	0.014323	0	23	208				
EPHB6	2051	broad.mit.edu	37	7	142566409	142566409	+	Missense_Mutation	SNP	G	G	A	rs201556658		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:142566409G>A	ENST00000392957.2	+	15	2985	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q	EPHB6_ENST00000442129.1_Missense_Mutation_p.R733Q|EPHB6_ENST00000411471.2_Missense_Mutation_p.R456Q	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	733	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AACATCCTGCGGCTGGAGGGC	0.677																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(2197-2199)cGg>cAg		EPH receptor B6		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	32.0	35.0	34.0		2198	5.0	1.0	7		34	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPHB6	NM_004445.3	43	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	733/1022	142566409	2,13000	2201	4300	6501	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142566409G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2198G>A	7.37:g.142566409G>A	ENSP00000376684:p.Arg733Gln					EPHB6_ENST00000442129.1_Missense_Mutation_p.R733Q|EPHB6_ENST00000411471.2_Missense_Mutation_p.R456Q	p.R733Q	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			15	2985	+	Melanoma(164;0.059)		733			Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2198G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321263	0.81580	2.27E-4	1.16E-4	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.63580	-0.05;-0.05;-0.05	4.99	4.99	0.66335	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40144	N	0.001162	T	0.51363	0.1670	N	0.25380	0.74	0.38384	D	0.945229	D;D	0.69078	0.997;0.993	P;B	0.45428	0.48;0.222	T	0.60969	-0.7157	10	0.87932	D	0	.	10.7971	0.46466	0.0979:0.0:0.9021:0.0	.	733;456	O15197;O15197-2	EPHB6_HUMAN;.	Q	733;733;456	ENSP00000376684:R733Q;ENSP00000410789:R733Q;ENSP00000409061:R456Q	ENSP00000376684:R733Q	R	+	2	0	EPHB6	142276531	0.991000	0.36638	1.000000	0.80357	0.956000	0.61745	2.164000	0.42387	2.326000	0.78906	0.313000	0.20887	CGG		0.677	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			21	36	0	0	0	0.010504	0	21	36				
CCSER1	401145	broad.mit.edu	37	4	91230090	91230090	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:91230090A>G	ENST00000509176.1	+	2	943	c.655A>G	c.(655-657)Aga>Gga	p.R219G	CCSER1_ENST00000333691.8_Missense_Mutation_p.R219G|CCSER1_ENST00000432775.2_Missense_Mutation_p.R219G	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	219																	GTACCAAGAGAGAGAACCTGT	0.408																																						ENST00000509176.1																			0											c.(655-657)Aga>Gga		coiled-coil serine-rich protein 1							57.0	55.0	56.0					4																	91230090		1864	4104	5968	SO:0001583	missense	401145							g.chr4:91230090A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.655A>G	4.37:g.91230090A>G	ENSP00000425040:p.Arg219Gly					CCSER1_ENST00000432775.2_Missense_Mutation_p.R219G|CCSER1_ENST00000333691.8_Missense_Mutation_p.R219G	p.R219G	NM_001145065.1	NP_001138537.1					2	943	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.655A>G	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	8.454	0.853652	0.17106	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.44482	1.49;0.92;1.49	4.66	-1.22	0.09494	.	1.001990	0.08044	N	0.995648	T	0.26919	0.0659	N	0.22421	0.69	0.09310	N	1	B;B;B	0.22480	0.07;0.044;0.044	B;B;B	0.21151	0.033;0.014;0.014	T	0.25433	-1.0132	10	0.29301	T	0.29	-0.0042	8.8399	0.35135	0.4724:0.4572:0.0704:0.0	.	219;219;219	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	G	219	ENSP00000425040:R219G;ENSP00000389283:R219G;ENSP00000329482:R219G	ENSP00000329482:R219G	R	+	1	2	FAM190A	91449113	0.042000	0.20092	0.009000	0.14445	0.951000	0.60555	0.476000	0.22180	-0.262000	0.09392	0.533000	0.62120	AGA		0.408	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		12	30	0	0	0	0.010729	0	12	30				
ZNF443	10224	broad.mit.edu	37	19	12541320	12541320	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:12541320C>T	ENST00000301547.5	-	4	1863	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	556					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GGCTTCTCTCCAGAGTGAATT	0.388																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1666-1668)Gga>Aga		zinc finger protein 443							98.0	97.0	97.0					19																	12541320		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541320C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1666G>A	19.37:g.12541320C>T	ENSP00000301547:p.Gly556Arg					CTD-3105H18.16_ENST00000595562.1_Intron	p.G556R	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1863	-			556						Missense_Mutation	SNP	ENST00000301547.5	37	c.1666G>A	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010009	0.54361	.	.	ENSG00000180855	ENST00000301547	T	0.26223	1.75	1.37	0.295	0.15752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37758	0.1015	L	0.48260	1.515	0.33253	D	0.558797	D	0.89917	1.0	D	0.83275	0.996	T	0.48714	-0.9011	9	0.66056	D	0.02	.	6.9386	0.24481	0.0:0.8319:0.0:0.1681	.	556	Q9Y2A4	ZN443_HUMAN	R	556	ENSP00000301547:G556R	ENSP00000301547:G556R	G	-	1	0	ZNF443	12402320	0.903000	0.30736	0.175000	0.22980	0.350000	0.29205	3.457000	0.53007	0.155000	0.19261	0.461000	0.40582	GGA		0.388	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		11	49	0	0	0	0.010729	0	11	49				
CAPZA3	93661	broad.mit.edu	37	12	18889205	18889205	+	5'Flank	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:18889205C>G	ENST00000317658.3	+	0	0				PLCZ1_ENST00000447925.2_Missense_Mutation_p.E27Q|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E29Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29Q|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27Q	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TCTAATTTTTCAAGTAACCTC	0.353																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(79-81)Gaa>Caa		phospholipase C, zeta 1							88.0	89.0	89.0					12																	18889205		2203	4300	6503	SO:0001631	upstream_gene_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18889205C>G	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889205C>G	Exception_encountered					RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29Q|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E29Q	p.E27Q	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			3	348	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		29					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.79G>C	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280413	0.59758	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875;ENST00000539072	T;T;T;T;T	0.43294	0.95;0.95;1.74;1.73;0.95	5.5	5.5	0.81552	EF-hand-like domain (1);	0.095817	0.45606	D	0.000350	T	0.55593	0.1930	L	0.61218	1.895	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	T	0.51108	-0.8747	10	0.33940	T	0.23	.	16.1156	0.81304	0.0:1.0:0.0:0.0	.	29	Q86YW0	PLCZ1_HUMAN	Q	29;27;27;29;49	ENSP00000266505:E29Q;ENSP00000402358:E27Q;ENSP00000400504:E27Q;ENSP00000445026:E29Q;ENSP00000438629:E49Q	ENSP00000266505:E29Q	E	-	1	0	PLCZ1	18780472	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.780000	0.26760	2.591000	0.87537	0.313000	0.20887	GAA		0.353	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		8	26	0	0	0	0.003080	0	8	26				
TCF21	6943	broad.mit.edu	37	6	134210544	134210544	+	Silent	SNP	C	C	T	rs570347337	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:134210544C>T	ENST00000367882.4	+	1	269	c.9C>T	c.(7-9)acC>acT	p.T3T	RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|TCF21_ENST00000237316.3_Silent_p.T3T|RP3-323P13.2_ENST00000607033.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	3					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T3T(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		ACATGTCCACCGGCTCCCTCA	0.522													C|||	9	0.00179712	0.0	0.0	5008	,	,		18903	0.0		0.0	False		,,,				2504	0.0092					ENST00000367882.4																			1	Substitution - coding silent(1)	p.T3T(1)	prostate(1)	cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(7-9)acC>acT		transcription factor 21							90.0	93.0	92.0					6																	134210544		2203	4300	6503	SO:0001819	synonymous_variant	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210544C>T	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.9C>T	6.37:g.134210544C>T						RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.T3T	p.T3T	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	269	+	Colorectal(23;0.221)|Breast(56;0.247)		3					E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	ENST00000367882.4	37	c.9C>T	CCDS5167.1																																																																																				0.522	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		14	91	0	0	0	0.006122	0	14	91				
GDF3	9573	broad.mit.edu	37	12	7842822	7842822	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:7842822C>G	ENST00000329913.3	-	2	794	c.747G>C	c.(745-747)agG>agC	p.R249S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	249					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCTGCTCTCCTTTTCCGAG	0.537																																						ENST00000329913.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(745-747)agG>agC		growth differentiation factor 3							97.0	88.0	91.0					12																	7842822		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842822C>G	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.747G>C	12.37:g.7842822C>G	ENSP00000331745:p.Arg249Ser						p.R249S	NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN			2	794	-			249					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.747G>C	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172264	0.21704	.	.	ENSG00000184344	ENST00000329913	D	0.85013	-1.93	4.61	2.72	0.32119	Transforming growth factor-beta, C-terminal (1);	0.240498	0.47852	N	0.000210	D	0.89687	0.6787	M	0.82433	2.59	0.44927	D	0.997947	D	0.62365	0.991	P	0.61800	0.894	D	0.88060	0.2793	10	0.46703	T	0.11	.	7.5534	0.27810	0.0:0.7337:0.1714:0.0949	.	249	Q9NR23	GDF3_HUMAN	S	249	ENSP00000331745:R249S	ENSP00000331745:R249S	R	-	3	2	GDF3	7734089	0.927000	0.31430	0.994000	0.49952	0.123000	0.20343	1.805000	0.38883	1.044000	0.40200	0.561000	0.74099	AGG		0.537	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			20	59	0	0	0	0.014323	0	20	59				
SIGLEC1	6614	broad.mit.edu	37	20	3669239	3669239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:3669239C>T	ENST00000344754.4	-	21	5097	c.5098G>A	c.(5098-5100)Gag>Aag	p.E1700K	SIGLEC1_ENST00000202578.4_Silent_p.V1675V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1700					cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTTGAGGTCTCACATGTGGCT	0.612																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(5098-5100)Gag>Aag		sialic acid binding Ig-like lectin 1, sialoadhesin							64.0	52.0	56.0					20																	3669239		2201	4300	6501	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3669239C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.5098G>A	20.37:g.3669239C>T	ENSP00000341141:p.Glu1700Lys					SIGLEC1_ENST00000202578.4_Silent_p.V1675V	p.E1700K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			21	5097	-			1700					Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.5098G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184104	0.38609	.	.	ENSG00000088827	ENST00000344754	T	0.21361	2.01	4.06	3.09	0.35607	.	.	.	.	.	T	0.09247	0.0228	N	0.14661	0.345	0.19945	N	0.999949	B	0.30482	0.281	B	0.24155	0.051	T	0.24368	-1.0162	9	0.02654	T	1	.	9.1471	0.36939	0.2179:0.7821:0.0:0.0	.	1700	Q9BZZ2	SN_HUMAN	K	1700	ENSP00000341141:E1700K	ENSP00000341141:E1700K	E	-	1	0	SIGLEC1	3617239	0.138000	0.22547	0.043000	0.18650	0.826000	0.46750	1.256000	0.32921	1.028000	0.39785	0.555000	0.69702	GAG		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		5	18	0	0	0	0.014758	0	5	18				
GRIN2A	2903	broad.mit.edu	37	16	9857127	9857127	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:9857127G>C	ENST00000396573.2	-	14	4583	c.4274C>G	c.(4273-4275)tCg>tGg	p.S1425W	GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425W|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425W|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000535259.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1425			S -> L (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S1425L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AACATGCTCCGAAATATACAC	0.473																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.S1425L(1)	skin(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(4273-4275)tCg>tGg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						79.0	72.0	74.0					16																	9857127		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857127G>C		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4274C>G	16.37:g.9857127G>C	ENSP00000379818:p.Ser1425Trp					GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425W|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425W	p.S1425W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4583	-			1425					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.4274C>G	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290399	0.40494	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.12255	2.7;2.7;2.7	5.79	4.83	0.62350	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.334636	0.32593	N	0.005891	T	0.28962	0.0719	L	0.60455	1.87	0.80722	D	1	D	0.61697	0.99	P	0.58266	0.836	T	0.01432	-1.1356	9	.	.	.	.	15.2816	0.73790	0.0:0.0:0.8589:0.1411	.	1425	Q12879	NMDE1_HUMAN	W	1425	ENSP00000379818:S1425W;ENSP00000332549:S1425W;ENSP00000379820:S1425W	.	S	-	2	0	GRIN2A	9764628	1.000000	0.71417	0.315000	0.25238	0.931000	0.56810	5.852000	0.69488	1.425000	0.47237	0.655000	0.94253	TCG		0.473	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			17	34	0	0	0	0.004007	0	17	34				
COL14A1	7373	broad.mit.edu	37	8	121290786	121290786	+	Silent	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:121290786G>C	ENST00000297848.3	+	28	3720	c.3450G>C	c.(3448-3450)gtG>gtC	p.V1150V	COL14A1_ENST00000247781.3_Silent_p.V1055V|COL14A1_ENST00000309791.4_Silent_p.V1150V	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGATGATGTGAACAAAATCT	0.353																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3448-3450)gtG>gtC		collagen, type XIV, alpha 1							91.0	82.0	85.0					8																	121290786		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121290786G>C		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3450G>C	8.37:g.121290786G>C						COL14A1_ENST00000309791.4_Silent_p.V1150V|COL14A1_ENST00000247781.3_Silent_p.V1055V	p.V1150V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		28	3720	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1150			VWFA 2.			Silent	SNP	ENST00000297848.3	37	c.3450G>C	CCDS34938.1																																																																																				0.353	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		18	18	0	0	0	0.008871	0	18	18				
COL3A1	1281	broad.mit.edu	37	2	189864617	189864617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:189864617C>G	ENST00000304636.3	+	32	2449	c.2279C>G	c.(2278-2280)cCa>cGa	p.P760R	COL3A1_ENST00000317840.5_Missense_Mutation_p.P760R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	760	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAAGATGGCCCAAGGGTGAGT	0.438																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2278-2280)cCa>cGa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						75.0	67.0	69.0					2																	189864617		2203	4292	6495	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189864617C>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2279C>G	2.37:g.189864617C>G	ENSP00000304408:p.Pro760Arg					COL3A1_ENST00000317840.5_Missense_Mutation_p.P760R	p.P760R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		32	2449	+			760			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2279C>G	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	1.624	-0.520720	0.04171	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.98684	-5.07;-5.07	5.35	5.35	0.76521	.	0.182356	0.26931	N	0.021769	D	0.95392	0.8504	L	0.49778	1.585	0.09310	N	1	P	0.37864	0.61	B	0.30646	0.118	D	0.88549	0.3115	10	0.17832	T	0.49	.	5.5764	0.17225	0.1674:0.6786:0.0:0.154	.	760	P02461	CO3A1_HUMAN	R	760	ENSP00000304408:P760R;ENSP00000315243:P760R	ENSP00000304408:P760R	P	+	2	0	COL3A1	189572862	0.278000	0.24230	0.704000	0.30370	0.364000	0.29643	3.360000	0.52299	2.660000	0.90430	0.557000	0.71058	CCA		0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		3	19	0	0	0	0.009096	0	3	19				
SIPA1L3	23094	broad.mit.edu	37	19	38591744	38591744	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:38591744C>G	ENST00000222345.6	+	6	2416	c.1907C>G	c.(1906-1908)tCc>tGc	p.S636C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	636	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCAGAGCTCCGAGGAGGAG	0.607																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(1906-1908)tCc>tGc		signal-induced proliferation-associated 1 like 3							42.0	41.0	42.0					19																	38591744		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38591744C>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1907C>G	19.37:g.38591744C>G	ENSP00000222345:p.Ser636Cys						p.S636C	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		6	2416	+			636			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.1907C>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041966	0.93685	.	.	ENSG00000105738	ENST00000222345	D	0.94537	-3.45	5.11	5.11	0.69529	Rap/ran-GAP (1);	0.058891	0.64402	D	0.000001	D	0.97371	0.9140	M	0.90650	3.135	0.48830	D	0.999716	D	0.54772	0.968	P	0.59889	0.865	D	0.97929	1.0319	10	0.87932	D	0	-26.18	17.8292	0.88676	0.0:1.0:0.0:0.0	.	636	O60292	SI1L3_HUMAN	C	636	ENSP00000222345:S636C	ENSP00000222345:S636C	S	+	2	0	SIPA1L3	43283584	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	4.393000	0.59665	2.816000	0.96949	0.561000	0.74099	TCC		0.607	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		8	28	0	0	0	0.004482	0	8	28				
OTOP1	133060	broad.mit.edu	37	4	4199228	4199228	+	Missense_Mutation	SNP	C	C	G	rs566380189		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:4199228C>G	ENST00000296358.4	-	5	1357	c.1333G>C	c.(1333-1335)Gaa>Caa	p.E445Q		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	445					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAATGGATTCAAAGATGAAG	0.542																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1333-1335)Gaa>Caa		otopetrin 1							58.0	62.0	61.0					4																	4199228		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199228C>G	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1333G>C	4.37:g.4199228C>G	ENSP00000296358:p.Glu445Gln						p.E445Q	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1357	-			445					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1333G>C	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760213	0.49468	.	.	ENSG00000163982	ENST00000296358	T	0.22336	1.96	4.76	4.76	0.60689	.	0.105487	0.64402	D	0.000005	T	0.51805	0.1696	M	0.82716	2.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.60224	-0.7305	10	0.87932	D	0	-2.5669	18.1569	0.89694	0.0:1.0:0.0:0.0	.	445	Q7RTM1	OTOP1_HUMAN	Q	445	ENSP00000296358:E445Q	ENSP00000296358:E445Q	E	-	1	0	OTOP1	4250129	1.000000	0.71417	0.767000	0.31495	0.226000	0.24999	5.574000	0.67424	2.365000	0.80145	0.195000	0.17529	GAA		0.542	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		10	62	0	0	0	0.006214	0	10	62				
SLC27A4	10999	broad.mit.edu	37	9	131115719	131115719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:131115719G>A	ENST00000300456.4	+	9	1340	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	408					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TTCAATAGCCGCATCCTGTCC	0.617																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(1222-1224)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 4							95.0	86.0	89.0					9																	131115719		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131115719G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1223G>A	9.37:g.131115719G>A	ENSP00000300456:p.Arg408His					SLC27A4_ENST00000372870.1_Intron	p.R408H	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			9	1340	+			408					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.1223G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475108	0.84640	.	.	ENSG00000167114	ENST00000300456	T	0.49432	0.78	5.9	5.9	0.94986	AMP-dependent synthetase/ligase (1);	0.054604	0.85682	D	0.000000	T	0.51958	0.1705	M	0.86028	2.79	0.80722	D	1	P	0.40553	0.721	B	0.34652	0.187	T	0.55872	-0.8072	10	0.15499	T	0.54	-23.5392	19.2671	0.93993	0.0:0.0:1.0:0.0	.	408	Q6P1M0	S27A4_HUMAN	H	408	ENSP00000300456:R408H	ENSP00000300456:R408H	R	+	2	0	SLC27A4	130155540	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.483000	0.60264	2.788000	0.95919	0.650000	0.86243	CGC		0.617	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			4	91	0	0	0	0.009096	0	4	91				
KL	9365	broad.mit.edu	37	13	33590903	33590903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr13:33590903C>G	ENST00000380099.3	+	1	333	c.325C>G	c.(325-327)Ctg>Gtg	p.L109V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	109	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAACGCCAGTCTGCCGTTGGG	0.711																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(325-327)Ctg>Gtg		klotho							11.0	14.0	13.0					13																	33590903		2152	4200	6352	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33590903C>G	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.325C>G	13.37:g.33590903C>G	ENSP00000369442:p.Leu109Val					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	p.L109V	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	333	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	109			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.325C>G	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.959393	0.00465	.	.	ENSG00000133116	ENST00000380099	T	0.21734	1.99	4.1	-2.21	0.06973	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	3.655870	0.01239	N	0.008566	T	0.13200	0.0320	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.21484	-1.0244	10	0.11182	T	0.66	2.4939	6.2747	0.20973	0.0:0.4537:0.2382:0.3081	.	109	Q9UEF7	KLOT_HUMAN	V	109	ENSP00000369442:L109V	ENSP00000369442:L109V	L	+	1	2	KL	32488903	0.949000	0.32298	0.000000	0.03702	0.001000	0.01503	0.000000	0.12993	-1.382000	0.02109	-1.943000	0.00494	CTG		0.711	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			4	23	0	0	0	0.009096	0	4	23				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						ENST00000251772.4																			4	Substitution - coding silent(4)	p.G13G(4)	lung(2)|kidney(2)	breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(37-39)ggT>ggG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G						PLXNA1_ENST00000393409.2_Silent_p.G36G	p.G13G			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	108	+			36						Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		5	29	0	0	0	0.003080	0	5	29				
CTTNBP2	83992	broad.mit.edu	37	7	117432019	117432019	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:117432019G>C	ENST00000160373.3	-	4	1322	c.1231C>G	c.(1231-1233)Caa>Gaa	p.Q411E	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	411	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGTGTTTGAGCGGTGGGA	0.522																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1231-1233)Caa>Gaa		cortactin binding protein 2							199.0	177.0	185.0					7																	117432019		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432019G>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1231C>G	7.37:g.117432019G>C	ENSP00000160373:p.Gln411Glu						p.Q411E	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1322	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		411			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1231C>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.216641	0.00024	.	.	ENSG00000077063	ENST00000160373	T	0.63744	-0.06	4.52	4.52	0.55395	.	0.571274	0.16235	N	0.223406	T	0.57755	0.2075	M	0.75447	2.3	0.09310	N	1	B	0.21309	0.054	B	0.21360	0.034	T	0.44574	-0.9319	10	0.23891	T	0.37	-3.2383	7.4765	0.27378	0.0879:0.0:0.7447:0.1674	.	411	Q8WZ74	CTTB2_HUMAN	E	411	ENSP00000160373:Q411E	ENSP00000160373:Q411E	Q	-	1	0	CTTNBP2	117219255	0.991000	0.36638	0.096000	0.21009	0.012000	0.07955	2.855000	0.48333	2.500000	0.84329	0.460000	0.39030	CAA		0.522	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		34	115	0	0	0	0.013726	0	34	115				
BDNF	627	broad.mit.edu	37	11	27679532	27679532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:27679532C>T	ENST00000525528.1	-	1	1673	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	BDNF_ENST00000439476.2_Missense_Mutation_p.E194K|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.E202K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.E194K|BDNF_ENST00000356660.4_Missense_Mutation_p.E194K|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.E209K|BDNF_ENST00000533131.1_Missense_Mutation_p.E194K|BDNF_ENST00000395980.2_Missense_Mutation_p.E194K|BDNF_ENST00000533246.1_Missense_Mutation_p.E194K|BDNF_ENST00000395983.3_Missense_Mutation_p.E194K|BDNF_ENST00000418212.1_Missense_Mutation_p.E194K|BDNF_ENST00000395978.3_Missense_Mutation_p.E194K|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000530861.1_Missense_Mutation_p.E194K|BDNF_ENST00000525950.1_Missense_Mutation_p.E194K|BDNF_ENST00000395981.3_Missense_Mutation_p.E194K|BDNF_ENST00000532997.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.E276K|BDNF-AS_ENST00000532965.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	194					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						CTGCAGCCTTCTTTTGTGTAA	0.512																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(580-582)Gaa>Aaa		brain-derived neurotrophic factor							184.0	182.0	183.0					11																	27679532		2202	4299	6501	SO:0001583	missense	627					extracellular region	growth factor activity	g.chr11:27679532C>T	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.580G>A	11.37:g.27679532C>T	ENSP00000437138:p.Glu194Lys					BDNF_ENST00000395981.3_Missense_Mutation_p.E194K|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000439476.2_Missense_Mutation_p.E194K|BDNF_ENST00000314915.6_Missense_Mutation_p.E202K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.E194K|BDNF_ENST00000438929.1_Missense_Mutation_p.E276K|BDNF_ENST00000530861.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.E194K|BDNF_ENST00000418212.1_Missense_Mutation_p.E194K|BDNF_ENST00000395986.2_Missense_Mutation_p.E209K|BDNF_ENST00000532997.1_Missense_Mutation_p.E194K|BDNF_ENST00000533131.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.E194K|BDNF_ENST00000525950.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.E194K	p.E194K	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN			1	1673	-			194					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	c.580G>A	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604775	0.46423	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	6.08	6.08	0.98989	Nerve growth factor-related (4);	0.156078	0.56097	D	0.000034	T	0.72961	0.3526	N	0.24115	0.695	0.80722	D	1	P;P;P;B;P	0.48640	0.726;0.908;0.913;0.358;0.913	P;P;P;B;P	0.61533	0.569;0.527;0.89;0.082;0.89	T	0.74639	-0.3598	10	0.87932	D	0	-13.6562	20.6721	0.99693	0.0:1.0:0.0:0.0	.	223;276;202;194;209	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	K	194;194;209;194;194;194;194;194;194;276;194;194;194;194;194;202;194	ENSP00000389345:E194K;ENSP00000437138:E194K;ENSP00000379309:E209K;ENSP00000432727:E194K;ENSP00000349084:E194K;ENSP00000400502:E194K;ENSP00000432376:E194K;ENSP00000435564:E194K;ENSP00000379307:E194K;ENSP00000414303:E276K;ENSP00000379304:E194K;ENSP00000435805:E194K;ENSP00000379305:E194K;ENSP00000379302:E194K;ENSP00000432035:E194K;ENSP00000320002:E202K;ENSP00000389564:E194K	ENSP00000320002:E202K	E	-	1	0	BDNF	27636108	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GAA		0.512	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		38	108	0	0	0	0.005524	0	38	108				
MAP1LC3B2	643246	broad.mit.edu	37	12	117013807	117013807	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:117013807C>G	ENST00000556529.1	+	1	152	c.60C>G	c.(58-60)gtC>gtG	p.V20V	MAP1LC3B2_ENST00000306985.4_Silent_p.V20V			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	20					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						TAGAAGATGTCCGACTTATTC	0.537																																						ENST00000306985.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(58-60)gtC>gtG		microtubule-associated protein 1 light chain 3 beta 2							126.0	121.0	123.0					12																	117013807		2203	4300	6503	SO:0001819	synonymous_variant	643246				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		g.chr12:117013807C>G		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.60C>G	12.37:g.117013807C>G						MAP1LC3B2_ENST00000556529.1_Silent_p.V20V	p.V20V	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN			2	214	+			20						Silent	SNP	ENST00000556529.1	37	c.60C>G	CCDS41841.1																																																																																				0.537	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		17	96	0	0	0	0.004007	0	17	96				
FANCL	55120	broad.mit.edu	37	2	58388764	58388764	+	Missense_Mutation	SNP	T	T	C	rs553742734	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:58388764T>C	ENST00000233741.4	-	12	949	c.913A>G	c.(913-915)Atg>Gtg	p.M305V	FANCL_ENST00000403295.3_Missense_Mutation_p.M277V|FANCL_ENST00000402135.3_Missense_Mutation_p.M310V|FANCL_ENST00000403676.1_Missense_Mutation_p.M188V	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	305					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CCACAATCCATAGTAAAATCC	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000402135.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						c.(928-930)Atg>Gtg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group L							77.0	77.0	77.0					2																	58388764		2202	4299	6501	SO:0001583	missense	55120	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58388764T>C	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.913A>G	2.37:g.58388764T>C	ENSP00000233741:p.Met305Val					FANCL_ENST00000403676.1_Missense_Mutation_p.M188V|FANCL_ENST00000403295.3_Missense_Mutation_p.M277V|FANCL_ENST00000233741.4_Missense_Mutation_p.M305V	p.M310V	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN			12	964	-			305					Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	c.928A>G	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	T	6.129	0.392123	0.11581	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070;ENST00000446381	T;T;T;T;T	0.39229	1.09;1.1;1.1;1.09;1.1	5.91	3.55	0.40652	Zinc finger, RING/FYVE/PHD-type (1);	0.375973	0.37136	N	0.002228	T	0.20373	0.0490	N	0.05351	-0.065	0.80722	D	1	B;B;B;B	0.15141	0.002;0.001;0.012;0.004	B;B;B;B	0.15484	0.009;0.005;0.01;0.013	T	0.05037	-1.0910	10	0.12103	T	0.63	-11.8427	10.3064	0.43683	0.0:0.1329:0.0:0.8671	.	246;277;310;305	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	V	277;305;310;188;246;157	ENSP00000386097:M277V;ENSP00000233741:M305V;ENSP00000385021:M310V;ENSP00000384046:M188V;ENSP00000401280:M246V	ENSP00000233741:M305V	M	-	1	0	FANCL	58242268	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.327000	0.43858	0.500000	0.27991	-0.256000	0.11100	ATG		0.333	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		2	19	0	0	0	0.004672	0	2	19				
ZNF697	90874	broad.mit.edu	37	1	120165638	120165638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:120165638C>T	ENST00000421812.2	-	3	1447	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAAGCCCTTCCCGCACTCGCG	0.667																																						ENST00000421812.2																			0				ovary(2)	2						c.(1327-1329)gGg>gAg		zinc finger protein 697							17.0	19.0	18.0					1																	120165638		2186	4291	6477	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165638C>T	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1328G>A	1.37:g.120165638C>T	ENSP00000396857:p.Gly443Glu						p.G443E	NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1447	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	443					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1328G>A	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371816	0.42003	.	.	ENSG00000143067	ENST00000421812	T	0.07114	3.22	4.98	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.215010	0.23710	N	0.045327	T	0.17066	0.0410	M	0.76328	2.33	0.35991	D	0.83668	D	0.89917	1.0	D	0.97110	1.0	T	0.01688	-1.1295	10	0.62326	D	0.03	-23.7528	11.4513	0.50154	0.0:0.911:0.0:0.089	.	443	Q5TEC3	ZN697_HUMAN	E	443	ENSP00000396857:G443E	ENSP00000396857:G443E	G	-	2	0	ZNF697	119967161	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	4.784000	0.62411	1.256000	0.44068	-0.251000	0.11542	GGG		0.667	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		3	6	0	0	0	0.004672	0	3	6				
COLEC12	81035	broad.mit.edu	37	18	335145	335145	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:335145C>A	ENST00000400256.3	-	6	1620	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	471	Collagen-like 1.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTCCCCCTTCTCTCCTTTCT	0.632																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1411-1413)gaG>gaT		collectin sub-family member 12							32.0	34.0	34.0					18																	335145		2196	4293	6489	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335145C>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1413G>T	18.37:g.335145C>A	ENSP00000383115:p.Glu471Asp						p.E471D	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			6	1620	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	471			Collagen-like 1.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1413G>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	7.177	0.588721	0.13812	.	.	ENSG00000158270	ENST00000400256	T	0.16897	2.31	5.66	1.9	0.25705	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.16066	0.365	0.49687	D	0.999811	B	0.13594	0.008	B	0.20184	0.028	T	0.27434	-1.0074	10	0.10111	T	0.7	-28.2131	1.6388	0.02748	0.197:0.4416:0.1023:0.2591	.	471	Q5KU26	COL12_HUMAN	D	471	ENSP00000383115:E471D	ENSP00000383115:E471D	E	-	3	2	COLEC12	325145	0.029000	0.19370	0.996000	0.52242	0.994000	0.84299	-1.123000	0.03263	0.338000	0.23692	0.655000	0.94253	GAG		0.632	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			14	42	1	0	0.00185496	0.016723	0.00194771	14	42				
ROPN1B	152015	broad.mit.edu	37	3	125694519	125694519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:125694519C>G	ENST00000514116.1	+	4	545	c.230C>G	c.(229-231)tCt>tGt	p.S77C	ROPN1B_ENST00000251776.4_Missense_Mutation_p.S77C|ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000511082.1_5'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	77					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		ATCCTGCATTCTCAGGTAAGG	0.567																																						ENST00000514116.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8						c.(229-231)tCt>tGt		rhophilin associated tail protein 1B							79.0	68.0	72.0					3																	125694519		2203	4300	6503	SO:0001583	missense	152015				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	g.chr3:125694519C>G	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.230C>G	3.37:g.125694519C>G	ENSP00000426271:p.Ser77Cys					ROPN1B_ENST00000511082.1_5'UTR|ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000251776.4_Missense_Mutation_p.S77C	p.S77C			Q9BZX4	ROP1B_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	4	545	+			77					D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	c.230C>G	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	C	7.399	0.632462	0.14322	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000513830;ENST00000508088	T;T;T;T	0.47177	1.93;1.93;1.42;0.85	2.76	1.85	0.25348	.	0.113450	0.40385	N	0.001116	T	0.32793	0.0841	L	0.29908	0.895	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.10450	0.002;0.005	T	0.13899	-1.0492	10	0.87932	D	0	-36.9239	8.0851	0.30767	0.0:0.7477:0.2523:0.0	.	77;77	B7Z7H1;Q9BZX4	.;ROP1B_HUMAN	C	77	ENSP00000426271:S77C;ENSP00000251776:S77C;ENSP00000425548:S77C;ENSP00000423058:S77C	ENSP00000251776:S77C	S	+	2	0	ROPN1B	127177209	1.000000	0.71417	0.993000	0.49108	0.538000	0.34931	2.782000	0.47758	0.426000	0.26116	-0.914000	0.02751	TCT		0.567	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		18	42	0	0	0	0.006122	0	18	42				
ANO4	121601	broad.mit.edu	37	12	101504254	101504254	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:101504254A>G	ENST00000392977.3	+	23	2432	c.2222A>G	c.(2221-2223)aAc>aGc	p.N741S	ANO4_ENST00000299222.9_Missense_Mutation_p.N261S|ANO4_ENST00000392979.3_Missense_Mutation_p.N706S|ANO4_ENST00000550015.1_Missense_Mutation_p.N261S			Q32M45	ANO4_HUMAN	anoctamin 4	741					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)			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						TTACTGAATAACATAATTGAA	0.398										HNSCC(74;0.22)																												ENST00000392979.3																			0				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.(2116-2118)aAc>aGc		anoctamin 4							106.0	103.0	104.0					12																	101504254		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101504254A>G	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.2222A>G	12.37:g.101504254A>G	ENSP00000376703:p.Asn741Ser	HNSCC(74;0.22)				ANO4_ENST00000299222.9_Missense_Mutation_p.N261S|ANO4_ENST00000550015.1_Missense_Mutation_p.N261S|ANO4_ENST00000392977.3_Missense_Mutation_p.N741S	p.N706S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			22	2478	+			741					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2117A>G		.	.	.	.	.	.	.	.	.	.	A	24.5	4.534438	0.85812	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.86268	0.5892	M	0.89095	3.005	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.994;0.998;0.997	D	0.89008	0.3426	10	0.72032	D	0.01	.	15.1468	0.72662	1.0:0.0:0.0:0.0	.	261;741;706	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	S	706;261;741;261	ENSP00000376705:N706S;ENSP00000299222:N261S;ENSP00000376703:N741S;ENSP00000450192:N261S	ENSP00000299222:N261S	N	+	2	0	ANO4	100028385	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	1.975000	0.57531	0.533000	0.62120	AAC		0.398	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		3	73	0	0	0	0.004672	0	3	73				
NOTCH3	4854	broad.mit.edu	37	19	15276316	15276316	+	Missense_Mutation	SNP	C	C	T	rs372834264		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:15276316C>T	ENST00000263388.2	-	31	5753	c.5678G>A	c.(5677-5679)cGa>cAa	p.R1893Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1893					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGAGCGGTTTCGGATGAGAAT	0.592																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5677-5679)cGa>cAa		notch 3		C	GLN/ARG	0,4406		0,0,2203	53.0	52.0	52.0		5678	4.9	1.0	19		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOTCH3	NM_000435.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1893/2322	15276316	1,13005	2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276316C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5678G>A	19.37:g.15276316C>T	ENSP00000263388:p.Arg1893Gln						p.R1893Q	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		31	5753	-			1893					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5678G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470380	0.84533	0.0	1.16E-4	ENSG00000074181	ENST00000263388	T	0.63744	-0.06	4.9	4.9	0.64082	Ankyrin repeat-containing domain (4);	0.000000	0.30201	N	0.010173	T	0.67040	0.2851	N	0.17594	0.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.71777	-0.4490	10	0.59425	D	0.04	.	17.02	0.86431	0.0:1.0:0.0:0.0	.	1893	Q9UM47	NOTC3_HUMAN	Q	1893	ENSP00000263388:R1893Q	ENSP00000263388:R1893Q	R	-	2	0	NOTCH3	15137316	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	7.176000	0.77643	2.560000	0.86352	0.561000	0.74099	CGA		0.592	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		6	22	0	0	0	0.001168	0	6	22				
SCAF4	57466	broad.mit.edu	37	21	33057747	33057747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr21:33057747G>A	ENST00000286835.7	-	18	2642	c.2260C>T	c.(2260-2262)Cct>Tct	p.P754S	SCAF4_ENST00000399804.1_Missense_Mutation_p.P754S|SCAF4_ENST00000434667.3_Missense_Mutation_p.P739S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	754						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGGAGGAGGAATGGATACT	0.453																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2260-2262)Cct>Tct		SR-related CTD-associated factor 4							103.0	102.0	103.0					21																	33057747		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33057747G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2260C>T	21.37:g.33057747G>A	ENSP00000286835:p.Pro754Ser					SCAF4_ENST00000434667.3_Missense_Mutation_p.P739S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P754S	p.P754S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			18	2642	-			754					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2260C>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290197	0.40494	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.58358	0.68;0.7;0.34	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	T	0.59018	0.2163	L	0.38838	1.175	0.49389	D	0.99978	D;P;D;D	0.60575	0.979;0.948;0.988;0.979	P;P;P;P	0.56216	0.628;0.533;0.794;0.628	T	0.50074	-0.8870	10	0.24483	T	0.36	-13.5058	19.9772	0.97314	0.0:0.0:1.0:0.0	.	739;754;754;754	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	S	739;754;754	ENSP00000402377:P739S;ENSP00000286835:P754S;ENSP00000382703:P754S	ENSP00000286835:P754S	P	-	1	0	SCAF4	31979618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.724000	0.93272	0.563000	0.77884	CCT		0.453	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		12	63	0	0	0	0.004990	0	12	63				
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:125861042A>T	ENST00000373647.4	+	23	2916	c.2782A>T	c.(2782-2784)Aaa>Taa	p.K928*	RABGAP1_ENST00000373643.5_Nonsense_Mutation_p.K267*	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	928					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATCTGAGATTAAAAAAAACAG	0.398																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(2782-2784)Aaa>Taa		RAB GTPase activating protein 1							90.0	94.0	93.0					9																	125861042		2203	4300	6503	SO:0001587	stop_gained	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125861042A>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2782A>T	9.37:g.125861042A>T	ENSP00000362751:p.Lys928*					RABGAP1_ENST00000373643.5_Nonsense_Mutation_p.K267*	p.K928*	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			23	2916	+			928					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Nonsense_Mutation	SNP	ENST00000373647.4	37	c.2782A>T	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	A	40	8.040818	0.98624	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	.	.	.	5.22	5.22	0.72569	.	0.108853	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1277	15.2676	0.73675	1.0:0.0:0.0:0.0	.	.	.	.	X	928;267	.	ENSP00000362747:K267X	K	+	1	0	RABGAP1	124900863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.158000	0.89649	2.193000	0.70182	0.533000	0.62120	AAA		0.398	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		10	30	0	0	0	0.010729	0	10	30				
FLG	2312	broad.mit.edu	37	1	152279854	152279854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:152279854G>A	ENST00000368799.1	-	3	7543	c.7508C>T	c.(7507-7509)gCc>gTc	p.A2503V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2503	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGGGAGGCATCAGACCT	0.547									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7507-7509)gCc>gTc		filaggrin							340.0	326.0	331.0					1																	152279854		2203	4299	6502	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279854G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7508C>T	1.37:g.152279854G>A	ENSP00000357789:p.Ala2503Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A2503V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7543	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2503			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7508C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060894	0.19987	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	2.34	1.39	0.22231	.	.	.	.	.	T	0.00784	0.0026	M	0.81802	2.56	0.09310	N	1	P	0.41232	0.743	B	0.31390	0.129	T	0.47674	-0.9099	9	0.27082	T	0.32	.	4.7738	0.13169	0.1941:0.0:0.8059:0.0	.	2503	P20930	FILA_HUMAN	V	2503	ENSP00000357789:A2503V	ENSP00000357789:A2503V	A	-	2	0	FLG	150546478	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.116000	0.15561	0.310000	0.22990	0.306000	0.20318	GCC		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		183	353	0	0	0	0.014410	0	183	353				
CBLL1	79872	broad.mit.edu	37	7	107398754	107398754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:107398754G>A	ENST00000440859.3	+	6	1074	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.E202K	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	203	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGCTTCACTTGAAAATGTTCA	0.458																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(607-609)Gaa>Aaa		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							194.0	175.0	181.0					7																	107398754		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107398754G>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.607G>A	7.37:g.107398754G>A	ENSP00000401277:p.Glu203Lys					CBLL1_ENST00000222597.2_Missense_Mutation_p.E202K|CBLL1_ENST00000415884.2_3'UTR	p.E203K	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	1074	+			203					B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.607G>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489334	0.84962	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.34667	1.36;1.35;1.36	5.14	5.14	0.70334	.	0.191121	0.43747	D	0.000524	T	0.43590	0.1254	L	0.55481	1.735	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.46076	0.503;0.503	T	0.34551	-0.9824	10	0.45353	T	0.12	-2.5843	18.9708	0.92713	0.0:0.0:1.0:0.0	.	202;203	B7ZM03;Q75N03	.;HAKAI_HUMAN	K	203;82;202;153;149	ENSP00000401277:E203K;ENSP00000222597:E202K;ENSP00000410615:E153K	ENSP00000222597:E202K	E	+	1	0	CBLL1	107185990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.558000	0.86282	0.655000	0.94253	GAA		0.458	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		57	125	0	0	0	0.014410	0	57	125				
KAL1	3730	broad.mit.edu	37	X	8522000	8522000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:8522000C>G	ENST00000262648.3	-	9	1496	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	449	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TACCTTCTGTCTTCTTCCAGT	0.413																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1345-1347)aaG>aaC		Kallmann syndrome 1 sequence							116.0	100.0	105.0					X																	8522000		2203	4300	6503	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8522000C>G		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1347G>C	X.37:g.8522000C>G	ENSP00000262648:p.Lys449Asn						p.K449N	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			9	1496	-			449			Fibronectin type-III 3.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1347G>C	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	2.815	-0.246032	0.05906	.	.	ENSG00000011201	ENST00000262648	T	0.54279	0.58	4.2	3.32	0.38043	Fibronectin, type III (2);	0.107611	0.64402	D	0.000007	T	0.53417	0.1795	M	0.73598	2.24	0.30534	N	0.767128	B	0.25563	0.129	B	0.30495	0.116	T	0.52503	-0.8567	10	0.32370	T	0.25	-16.6521	12.2796	0.54757	0.0:0.8998:0.0:0.1002	.	449	P23352	KALM_HUMAN	N	449	ENSP00000262648:K449N	ENSP00000262648:K449N	K	-	3	2	KAL1	8482000	1.000000	0.71417	0.234000	0.24042	0.023000	0.10783	1.188000	0.32102	0.149000	0.19098	-1.195000	0.01675	AAG		0.413	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		5	21	0	0	0	0.001168	0	5	21				
CREBBP	1387	broad.mit.edu	37	16	3777767	3777767	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:3777767G>A	ENST00000262367.5	-	31	8090	c.7281C>T	c.(7279-7281)gtC>gtT	p.V2427V	CREBBP_ENST00000382070.3_Silent_p.V2389V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2427					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGTCCCCGACCAGGGACA	0.562			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(7279-7281)gtC>gtT		CREB binding protein							100.0	102.0	101.0					16																	3777767		2197	4300	6497	SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3777767G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.7281C>T	16.37:g.3777767G>A						CREBBP_ENST00000382070.3_Silent_p.V2389V	p.V2427V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	8090	-		Ovarian(90;0.0266)	2427					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.7281C>T	CCDS10509.1																																																																																				0.562	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		36	131	0	0	0	0.006230	0	36	131				
C15orf27	123591	broad.mit.edu	37	15	76467994	76467994	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:76467994G>A	ENST00000388942.3	+	8	1023	c.747G>A	c.(745-747)acG>acA	p.T249T	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	249					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGAGGCTGACGCAGATCTGTC	0.562																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(745-747)acG>acA		chromosome 15 open reading frame 27							115.0	94.0	101.0					15																	76467994		2197	4294	6491	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76467994G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.747G>A	15.37:g.76467994G>A						RP11-593F23.1_ENST00000558424.1_RNA	p.T249T	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			8	1023	+			249					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.747G>A	CCDS10289.2																																																																																				0.562	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		14	55	0	0	0	0.004007	0	14	55				
TUBB4A	10382	broad.mit.edu	37	19	6495873	6495873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:6495873G>A	ENST00000264071.2	-	4	1008	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R213C			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	213					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										TTGAGGGTGCGGAAACAGATG	0.627																																						ENST00000264071.2																			0											c.(637-639)Cgc>Tgc		tubulin, beta 4A class IVa							211.0	148.0	169.0					19																	6495873		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495873G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.637C>T	19.37:g.6495873G>A	ENSP00000264071:p.Arg213Cys					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R213C	p.R213C			P04350	TBB4_HUMAN			4	1008	-			213					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.637C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012353	0.54468	.	.	ENSG00000104833	ENST00000264071;ENST00000540257	T;T	0.70282	-0.47;-0.47	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000004	D	0.87289	0.6140	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91095	0.4910	10	0.87932	D	0	.	14.999	0.71455	0.0:0.0:1.0:0.0	.	213	P04350	TBB4A_HUMAN	C	213	ENSP00000264071:R213C;ENSP00000443590:R213C	ENSP00000264071:R213C	R	-	1	0	TUBB4	6446873	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.708000	0.84633	1.795000	0.52594	0.549000	0.68633	CGC		0.627	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		31	105	0	0	0	0.008361	0	31	105				
CXXC1	30827	broad.mit.edu	37	18	47810844	47810844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:47810844G>A	ENST00000285106.6	-	9	1823	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.A374V|CXXC1_ENST00000589940.1_Missense_Mutation_p.A370V|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000353909.3_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000269468.5_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	370					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGGCAGTGACGCAGGGTCCTT	0.597																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1108-1110)gCg>gTg		CXXC finger protein 1																																				SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47810844G>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1109C>T	18.37:g.47810844G>A	ENSP00000285106:p.Ala370Val					CXXC1_ENST00000589940.1_Missense_Mutation_p.A370V|CXXC1_ENST00000412036.2_Missense_Mutation_p.A374V	p.A370V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			9	1823	-			370					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1109C>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	G	9.969	1.224983	0.22457	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.23950	1.89;1.88	3.9	3.9	0.45041	.	0.616851	0.15965	U	0.236046	T	0.11324	0.0276	N	0.03608	-0.345	0.09310	N	0.999996	B;B;B;B	0.29253	0.154;0.239;0.154;0.04	B;B;B;B	0.15870	0.004;0.014;0.004;0.003	T	0.15093	-1.0449	10	0.31617	T	0.26	-6.7102	13.7315	0.62789	0.0:0.0:1.0:0.0	.	370;374;370;237	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	V	370;374	ENSP00000285106:A370V;ENSP00000390475:A374V	ENSP00000285106:A370V	A	-	2	0	CXXC1	46064842	0.546000	0.26457	0.882000	0.34594	0.730000	0.41778	4.221000	0.58574	1.896000	0.54893	0.297000	0.19635	GCG		0.597	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		13	120	0	0	0	0.002450	0	13	120				
APBB1	322	broad.mit.edu	37	11	6431880	6431880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:6431880G>C	ENST00000609360.1	-	2	797	c.698C>G	c.(697-699)tCc>tGc	p.S233C	APBB1_ENST00000389906.2_Missense_Mutation_p.S233C|APBB1_ENST00000299402.6_Missense_Mutation_p.S233C|APBB1_ENST00000311051.3_Missense_Mutation_p.S233C	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	233					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGAGCCATAGGAGGGGCTGCC	0.592																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(697-699)tCc>tGc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							55.0	55.0	55.0					11																	6431880		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6431880G>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.698C>G	11.37:g.6431880G>C	ENSP00000477213:p.Ser233Cys					APBB1_ENST00000311051.3_Missense_Mutation_p.S233C|APBB1_ENST00000299402.6_Missense_Mutation_p.S233C|APBB1_ENST00000533407.1_Intron	p.S233C	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	797	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	233					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.698C>G		.	.	.	.	.	.	.	.	.	.	G	19.41	3.822339	0.71028	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758	T;T;T	0.26518	1.73;1.73;1.74	5.23	5.23	0.72850	.	0.253842	0.33005	N	0.005384	T	0.45236	0.1332	L	0.46157	1.445	0.32208	N	0.576908	D	0.89917	1.0	D	0.79784	0.993	T	0.53781	-0.8390	10	0.72032	D	0.01	-16.941	16.3499	0.83199	0.0:0.0:1.0:0.0	.	233	O00213-2	.	C	233;233;233;82	ENSP00000299402:S233C;ENSP00000311912:S233C;ENSP00000374556:S233C	ENSP00000299402:S233C	S	-	2	0	APBB1	6388456	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.418000	0.66429	2.451000	0.82905	0.393000	0.25936	TCC		0.592	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		11	50	0	0	0	0.010729	0	11	50				
SLC6A20	54716	broad.mit.edu	37	3	45804560	45804560	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:45804560C>G	ENST00000358525.4	-	9	1423	c.1308G>C	c.(1306-1308)ctG>ctC	p.L436L	SLC6A20_ENST00000456124.2_Silent_p.L436L|SLC6A20_ENST00000353278.4_Silent_p.L399L|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	436					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAAGGCACACCAGACCTGGGG	0.592																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1306-1308)ctG>ctC		solute carrier family 6 (proline IMINO transporter), member 20							140.0	112.0	121.0					3																	45804560		2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45804560C>G	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1308G>C	3.37:g.45804560C>G						SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000456124.2_Silent_p.L436L|SLC6A20_ENST00000353278.4_Silent_p.L399L	p.L436L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	9	1423	-			436					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.1308G>C	CCDS43077.1																																																																																				0.592	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		13	55	0	0	0	0.004007	0	13	55				
SKI	6497	broad.mit.edu	37	1	2160913	2160913	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:2160913C>T	ENST00000378536.4	+	1	780	c.708C>T	c.(706-708)ctC>ctT	p.L236L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	236					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGCCCGAGCTCTACAGCAGCC	0.682																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(706-708)ctC>ctT		v-ski avian sarcoma viral oncogene homolog							16.0	20.0	18.0					1																	2160913		2185	4280	6465	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160913C>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.708C>T	1.37:g.2160913C>T							p.L236L	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	780	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		236					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.708C>T	CCDS39.1																																																																																				0.682	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		10	17	0	0	0	0.006214	0	10	17				
LONRF2	164832	broad.mit.edu	37	2	100916183	100916183	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:100916183C>T	ENST00000393437.3	-	5	1902	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	LONRF2_ENST00000409647.1_Silent_p.K178K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	421							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ACTGACCTTTCTTGGGAATTT	0.408																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1261-1263)aaG>aaA		LON peptidase N-terminal domain and ring finger 2							73.0	74.0	73.0					2																	100916183		2203	4300	6503	SO:0001819	synonymous_variant	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100916183C>T	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1263G>A	2.37:g.100916183C>T						LONRF2_ENST00000409647.1_Silent_p.K178K	p.K421K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			5	1902	-			421					B9A006|Q6ZSR4	Silent	SNP	ENST00000393437.3	37	c.1263G>A	CCDS2046.2																																																																																				0.408	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		22	68	0	0	0	0.014323	0	22	68				
GYG1	2992	broad.mit.edu	37	3	148712030	148712030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:148712030G>A	ENST00000345003.4	+	2	409	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	GYG1_ENST00000296048.6_Missense_Mutation_p.V37M|GYG1_ENST00000484197.1_Missense_Mutation_p.V37M|GYG1_ENST00000483267.1_Missense_Mutation_p.V37M	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	37					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAGGCTGGTCGTGCTCGCCAC	0.587																																						ENST00000345003.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8						c.(109-111)Gtg>Atg		glycogenin 1							72.0	69.0	70.0					3																	148712030		2203	4300	6503	SO:0001583	missense	2992				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding	g.chr3:148712030G>A	AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.109G>A	3.37:g.148712030G>A	ENSP00000340736:p.Val37Met					GYG1_ENST00000483267.1_Missense_Mutation_p.V37M|GYG1_ENST00000484197.1_Missense_Mutation_p.V37M|GYG1_ENST00000296048.6_Missense_Mutation_p.V37M	p.V37M	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		2	409	+			37					D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	c.109G>A	CCDS3139.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291027	0.80914	.	.	ENSG00000163754	ENST00000345003;ENST00000296048;ENST00000483267;ENST00000484197;ENST00000461191	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.31	5.31	0.75309	.	0.179846	0.48286	D	0.000185	T	0.81341	0.4802	M	0.80982	2.52	0.54753	D	0.999983	P;D;D;D	0.63046	0.823;0.987;0.979;0.992	B;P;P;P	0.52881	0.29;0.571;0.712;0.668	D	0.84506	0.0619	10	0.72032	D	0.01	-17.9699	18.9832	0.92762	0.0:0.0:1.0:0.0	.	37;37;37;37	G5E9W8;D3DNH0;P46976-2;P46976	.;.;.;GLYG_HUMAN	M	37	ENSP00000340736:V37M;ENSP00000296048:V37M;ENSP00000419499:V37M;ENSP00000420683:V37M;ENSP00000420247:V37M	ENSP00000296048:V37M	V	+	1	0	GYG1	150194720	1.000000	0.71417	0.928000	0.36995	0.378000	0.30076	9.378000	0.97191	2.475000	0.83589	0.650000	0.86243	GTG		0.587	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		18	65	0	0	0	0.012319	0	18	65				
CTAG2	30848	broad.mit.edu	37	X	153880412	153880412	+	3'UTR	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:153880412C>T	ENST00000247306.4	-	0	826				CTAG2_ENST00000369585.3_Silent_p.Q178Q	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2							centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTAGCGCCTCTGCCCTGAGG	0.602																																						ENST00000369585.3																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(532-534)caG>caA		cancer/testis antigen 2							70.0	62.0	65.0					X																	153880412		2203	4295	6498	SO:0001624	3_prime_UTR_variant	30848					centrosome		g.chrX:153880412C>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.*130G>A	X.37:g.153880412C>T						CTAG2_ENST00000247306.4_3'UTR	p.Q178Q	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN			3	586	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		0					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.534G>A	CCDS14759.1																																																																																				0.602	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		22	56	0	0	0	0.014323	0	22	56				
MYOCD	93649	broad.mit.edu	37	17	12642624	12642624	+	Silent	SNP	A	A	T	rs370115389		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:12642624A>T	ENST00000343344.4	+	7	696	c.696A>T	c.(694-696)atA>atT	p.I232I	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.I136I|MYOCD_ENST00000425538.1_Silent_p.I232I			Q8IZQ8	MYCD_HUMAN	myocardin	232					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCACCCCCATAGCCGTGCATG	0.587																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(694-696)atA>atT		myocardin		A	,,	0,4406		0,0,2203	50.0	45.0	47.0		696,408,696	-5.2	0.0	17		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MYOCD	NM_001146312.1,NM_001146313.1,NM_153604.2	,,	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	,,	232/987,136/685,232/939	12642624	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12642624A>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.696A>T	17.37:g.12642624A>T						MYOCD_ENST00000395988.1_Silent_p.I136I|MYOCD_ENST00000343344.4_Silent_p.I232I	p.I232I	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	7	896	+			232					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.696A>T	CCDS11163.1																																																																																				0.587	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		32	39	0	0	0	0.012213	0	32	39				
RANBP3L	202151	broad.mit.edu	37	5	36265595	36265595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:36265595G>C	ENST00000296604.3	-	5	781	c.296C>G	c.(295-297)tCa>tGa	p.S99*	RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99*|RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	99					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAAGAGCTGATGTCATAAA	0.299																																						ENST00000296604.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16						c.(295-297)tCa>tGa		RAN binding protein 3-like							85.0	85.0	85.0					5																	36265595		2203	4300	6503	SO:0001587	stop_gained	202151				intracellular transport			g.chr5:36265595G>C	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.296C>G	5.37:g.36265595G>C	ENSP00000296604:p.Ser99*					RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99*|RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124*	p.S99*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		5	781	-	all_lung(31;4.52e-05)		99					B7Z866|E9PGP9|Q96LK2	Nonsense_Mutation	SNP	ENST00000296604.3	37	c.296C>G	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704281	0.30232	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759;ENST00000505865	.	.	.	5.12	5.12	0.69794	.	0.643379	0.14566	N	0.311747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	0.085	14.2461	0.65990	0.0:0.0:1.0:0.0	.	.	.	.	X	99;124;99;99	.	ENSP00000296604:S99X	S	-	2	0	RANBP3L	36301352	0.985000	0.35326	0.927000	0.36925	0.018000	0.09664	3.195000	0.51013	2.817000	0.96982	0.563000	0.77884	TCA		0.299	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		6	32	0	0	0	0.001168	0	6	32				
DNAH11	8701	broad.mit.edu	37	7	21646281	21646281	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:21646281T>C	ENST00000409508.3	+	20	3813	c.3782T>C	c.(3781-3783)tTc>tCc	p.F1261S	DNAH11_ENST00000328843.6_Missense_Mutation_p.F1261S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1261	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGGCAGAGTTCAGAGAGAGA	0.338									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3781-3783)tTc>tCc		dynein, axonemal, heavy chain 11							78.0	71.0	73.0					7																	21646281		1835	4097	5932	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21646281T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3782T>C	7.37:g.21646281T>C	ENSP00000475939:p.Phe1261Ser					DNAH11_ENST00000409508.3_Missense_Mutation_p.F1261S	p.F1261S			Q96DT5	DYH11_HUMAN			20	3813	+			1261			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3782T>C		.	.	.	.	.	.	.	.	.	.	T	19.83	3.900536	0.72754	.	.	ENSG00000105877	ENST00000328843	T	0.22134	1.97	5.46	5.46	0.80206	.	0.120737	0.64402	D	0.000013	T	0.48732	0.1516	.	.	.	0.52501	D	0.999954	D	0.76494	0.999	D	0.83275	0.996	T	0.53394	-0.8445	9	0.87932	D	0	.	15.2118	0.73230	0.0:0.0:0.0:1.0	.	1261	Q96DT5	DYH11_HUMAN	S	1261	ENSP00000330671:F1261S	ENSP00000330671:F1261S	F	+	2	0	DNAH11	21612806	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.360000	0.59455	2.067000	0.61834	0.533000	0.62120	TTC		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	10	0	0	0	0.009096	0	3	10				
OR14J1	442191	broad.mit.edu	37	6	29274980	29274980	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:29274980A>G	ENST00000377160.2	+	1	578	c.514A>G	c.(514-516)Att>Gtt	p.I172V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GAAGAGAGTCATTCACCAATT	0.478																																						ENST00000377160.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(514-516)Att>Gtt		olfactory receptor, family 14, subfamily J, member 1							169.0	168.0	169.0					6																	29274980		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274980A>G		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.514A>G	6.37:g.29274980A>G	ENSP00000366365:p.Ile172Val						p.I172V	NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN			1	578	+			172					A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.514A>G	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	A	9.032	0.987545	0.18966	.	.	ENSG00000204695	ENST00000377160	T	0.00179	8.61	4.86	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.337943	0.21599	N	0.071976	T	0.00073	0.0002	M	0.64080	1.96	0.09310	N	1	B	0.27229	0.172	B	0.31614	0.133	T	0.32534	-0.9903	10	0.09084	T	0.74	.	10.5047	0.44826	0.922:0.0:0.078:0.0	.	172	Q9UGF5	O14J1_HUMAN	V	172	ENSP00000366365:I172V	ENSP00000366365:I172V	I	+	1	0	OR14J1	29382959	0.005000	0.15991	0.011000	0.14972	0.654000	0.38779	0.810000	0.27183	0.976000	0.38417	0.528000	0.53228	ATT		0.478	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			42	90	0	0	0	0.010771	0	42	90				
BCLAF1	9774	broad.mit.edu	37	6	136582563	136582563	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:136582563C>T	ENST00000531224.1	-	12	2849	c.2597G>A	c.(2596-2598)cGt>cAt	p.R866H	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R817H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R84H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R693H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R815H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R815H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R864H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	866					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAAGTACCACGACCTCTTCC	0.408																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2596-2598)cGt>cAt		BCL2-associated transcription factor 1							209.0	209.0	209.0					6																	136582563		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582563C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2597G>A	6.37:g.136582563C>T	ENSP00000435210:p.Arg866His					BCLAF1_ENST00000392348.2_Missense_Mutation_p.R815H|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R817H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R84H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R815H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R864H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R693H	p.R866H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2849	-	Colorectal(23;0.24)		866					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2597G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484459	0.84854	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	T;T;T;T;T;T;T	0.58940	2.06;1.77;1.77;1.82;2.06;0.3;1.77	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	T	0.68201	0.2975	L	0.49126	1.545	0.58432	D	0.999992	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.991;0.999;0.991;0.991;0.993	T	0.70730	-0.4792	10	0.87932	D	0	-4.1232	19.3961	0.94607	0.0:1.0:0.0:0.0	.	864;145;815;866;693	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	H	866;815;817;693;864;84;815	ENSP00000435210:R866H;ENSP00000229446:R815H;ENSP00000435441:R817H;ENSP00000436501:R693H;ENSP00000434826:R864H;ENSP00000031135:R84H;ENSP00000376159:R815H	ENSP00000031135:R84H	R	-	2	0	BCLAF1	136624256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.412000	0.73303	2.581000	0.87130	0.655000	0.94253	CGT		0.408	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		25	227	0	0	0	0.018920	0	25	227				
AGTPBP1	23287	broad.mit.edu	37	9	88307677	88307677	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:88307677G>C	ENST00000357081.3	-	3	228	c.84C>G	c.(82-84)atC>atG	p.I28M	AGTPBP1_ENST00000376081.4_Missense_Mutation_p.I28M|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.I28M|AGTPBP1_ENST00000337006.4_De_novo_Start_InFrame|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_De_novo_Start_InFrame|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.I80M			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	28					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCTCAGCATTGATCTTCTCCA	0.388																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(82-84)atC>atG		ATP/GTP binding protein 1							126.0	110.0	115.0					9																	88307677		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88307677G>C	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.84C>G	9.37:g.88307677G>C	ENSP00000349592:p.Ile28Met					AGTPBP1_ENST00000376109.3_Missense_Mutation_p.I80M|AGTPBP1_ENST00000337006.4_De_novo_Start_InFrame|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_De_novo_Start_InFrame|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.I28M|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.I28M	p.I28M			Q9UPW5	CBPC1_HUMAN			3	228	-			28					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.84C>G		.	.	.	.	.	.	.	.	.	.	G	11.47	1.648524	0.29336	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.65	2.72	0.32119	Armadillo-type fold (1);	0.222985	0.45606	D	0.000347	T	0.34629	0.0904	L	0.54323	1.7	0.80722	D	1	B;B;B	0.24823	0.112;0.085;0.112	B;B;B	0.20384	0.029;0.018;0.029	T	0.25433	-1.0132	10	0.72032	D	0.01	-3.8588	7.3558	0.26719	0.0922:0.0:0.7239:0.1839	.	80;28;28	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	M	28;28;80;28	ENSP00000349592:I28M;ENSP00000365251:I28M;ENSP00000365277:I80M;ENSP00000365249:I28M	ENSP00000349592:I28M	I	-	3	3	AGTPBP1	87497497	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	1.330000	0.33781	0.872000	0.35775	0.561000	0.74099	ATC		0.388	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		6	25	0	0	0	0.001168	0	6	25				
ELP4	26610	broad.mit.edu	37	11	31531473	31531473	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:31531473T>C	ENST00000350638.5	+	1	177	c.142T>C	c.(142-144)Tcc>Ccc	p.S48P	IMMP1L_ENST00000532287.1_5'Flank|IMMP1L_ENST00000278200.1_5'Flank|IMMP1L_ENST00000533642.1_5'Flank|ELP4_ENST00000395934.2_Missense_Mutation_p.S48P|IMMP1L_ENST00000534812.1_5'Flank|IMMP1L_ENST00000526776.1_5'Flank|ELP4_ENST00000379163.5_Missense_Mutation_p.S48P|IMMP1L_ENST00000528161.1_5'Flank	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	48					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TCGACTGGTGTCCATTGCGGG	0.627																																						ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(142-144)Tcc>Ccc		elongator acetyltransferase complex subunit 4							58.0	63.0	61.0					11																	31531473		2022	4172	6194	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31531473T>C	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.142T>C	11.37:g.31531473T>C	ENSP00000298937:p.Ser48Pro					ELP4_ENST00000350638.5_Missense_Mutation_p.S48P|ELP4_ENST00000379163.5_Missense_Mutation_p.S48P	p.S48P			Q96EB1	ELP4_HUMAN			1	149	+	Lung SC(675;0.225)		48					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.142T>C	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.884524	0.91814	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.43688	0.94;0.94;0.94	5.51	5.51	0.81932	.	0.225077	0.47093	D	0.000242	T	0.41789	0.1174	N	0.16066	0.365	0.33492	D	0.588801	D;D;D	0.71674	0.998;0.998;0.988	D;P;P	0.63488	0.915;0.905;0.796	T	0.52087	-0.8622	10	0.28530	T	0.3	-1.0315	11.0988	0.48161	0.0:0.0:0.1542:0.8458	.	48;48;48	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	P	48	ENSP00000298937:S48P;ENSP00000368461:S48P;ENSP00000379267:S48P	ENSP00000298937:S48P	S	+	1	0	ELP4	31488049	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.839000	0.39220	2.213000	0.71641	0.454000	0.30748	TCC		0.627	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		27	59	0	0	0	0.003954	0	27	59				
MRPL12	6182	broad.mit.edu	37	17	79673961	79673961	+	Missense_Mutation	SNP	C	C	T	rs368964351		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:79673961C>T	ENST00000333676.3	+	4	516	c.371C>T	c.(370-372)gCg>gTg	p.A124V	SLC25A10_ENST00000541223.1_Missense_Mutation_p.A124V|SLC25A10_ENST00000571730.1_Missense_Mutation_p.A124V	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	124					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ATCCCCATAGCGAAAGAACGG	0.562																																						ENST00000571730.1																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(370-372)gCg>gTg		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)	C	VAL/ALA	0,4406		0,0,2203	80.0	64.0	70.0		371	-2.4	0.0	17		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	MRPL12	NM_002949.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		124/199	79673961	1,13005	2203	4300	6503	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79673961C>T	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.371C>T	17.37:g.79673961C>T	ENSP00000333837:p.Ala124Val					MRPL12_ENST00000333676.3_Missense_Mutation_p.A124V|SLC25A10_ENST00000541223.1_Missense_Mutation_p.A124V	p.A124V			Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		4	502	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		0					Q969U0|Q9HCA2|Q9UQJ3	Missense_Mutation	SNP	ENST00000333676.3	37	c.371C>T	CCDS11785.1	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073408	0.20147	0.0	1.16E-4	ENSG00000183048	ENST00000541223;ENST00000333676;ENST00000332396	D;T	0.81908	-1.55;0.74	4.24	-2.38	0.06622	.	0.309092	0.34025	N	0.004337	T	0.59432	0.2193	N	0.21194	0.64	0.80722	D	1	B;B	0.34061	0.063;0.436	B;B	0.18561	0.011;0.022	T	0.31586	-0.9938	10	0.31617	T	0.26	-13.6047	4.0184	0.09654	0.4242:0.385:0.071:0.1198	.	124;124	B4DLN1;P52815	.;RM12_HUMAN	V	124	ENSP00000439565:A124V;ENSP00000333837:A124V	ENSP00000330017:A124V	A	+	2	0	SLC25A10	77284366	1.000000	0.71417	0.014000	0.15608	0.023000	0.10783	2.265000	0.43311	-0.780000	0.04553	-1.072000	0.02254	GCG		0.562	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440812.1	NM_002949		17	13	0	0	0	0.006122	0	17	13				
UNC13C	440279	broad.mit.edu	37	15	54916087	54916087	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:54916087G>T	ENST00000260323.11	+	31	6294	c.6294G>T	c.(6292-6294)aaG>aaT	p.K2098N	UNC13C_ENST00000539562.2_Missense_Mutation_p.K19N|UNC13C_ENST00000545554.1_Missense_Mutation_p.K2098N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K2096N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2098	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGACAAGAAGAGAAAACAAG	0.403																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(6292-6294)aaG>aaT		unc-13 homolog C (C. elegans)							120.0	115.0	116.0					15																	54916087		1868	4097	5965	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54916087G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6294G>T	15.37:g.54916087G>T	ENSP00000260323:p.Lys2098Asn					UNC13C_ENST00000260323.11_Missense_Mutation_p.K2098N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K2096N|UNC13C_ENST00000539562.2_Missense_Mutation_p.K19N	p.K2098N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	31	6294	+			2098			C2 2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.6294G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.630019	0.46944	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900;ENST00000539562	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-0.53	5.72	3.52	0.40303	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.097896	0.64402	D	0.000002	D	0.86100	0.5852	H	0.95043	3.615	0.47547	D	0.999455	P	0.45672	0.864	P	0.51079	0.658	D	0.86340	0.1704	10	0.49607	T	0.09	.	7.0773	0.25211	0.3208:0.0:0.6792:0.0	.	2098	Q8NB66	UN13C_HUMAN	N	2098;2098;2096;19	ENSP00000260323:K2098N;ENSP00000438156:K2098N;ENSP00000442569:K2096N;ENSP00000443886:K19N	ENSP00000260323:K2098N	K	+	3	2	UNC13C	52703379	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.427000	0.34881	1.418000	0.47098	0.563000	0.77884	AAG		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		19	45	1	0	8.28177e-16	0.007413	9.15354e-16	19	45				
SNCAIP	9627	broad.mit.edu	37	5	121761101	121761101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:121761101C>G	ENST00000261368.8	+	5	1319	c.1057C>G	c.(1057-1059)Cta>Gta	p.L353V	SNCAIP_ENST00000503116.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.L400V|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000504884.2_Missense_Mutation_p.S62C|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	353					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGAAACAATCTATTACATAT	0.428																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1198-1200)Cta>Gta		synuclein, alpha interacting protein							118.0	123.0	121.0					5																	121761101		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121761101C>G	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1057C>G	5.37:g.121761101C>G	ENSP00000261368:p.Leu353Val					SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000504884.2_Missense_Mutation_p.S62C|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L353V	p.L400V			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	7	2626	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	353					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1198C>G	CCDS4131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.52|15.52	2.859191|2.859191	0.51376|0.51376	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000261368;ENST00000379533;ENST00000261367;ENST00000503116|ENST00000504884	T;T;T;T|T	0.63744|0.53423	-0.06;-0.06;-0.06;-0.06|0.62	5.54|5.54	5.54|5.54	0.83059|0.83059	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.56187|0.56187	0.1968|0.1968	L|L	0.38649|0.38649	1.16|1.16	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.916;0.99;0.999|.	P;D;D|.	0.87578|.	0.861;0.979;0.998|.	T|T	0.57900|0.57900	-0.7731|-0.7731	10|7	0.26408|0.87932	T|D	0.33|0	-12.6485|-12.6485	19.4885|19.4885	0.95040|0.95040	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	400;400;353|.	Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5|.	.;.;SNCAP_HUMAN|.	V|C	353;400;400;400|62	ENSP00000261368:L353V;ENSP00000368848:L400V;ENSP00000261367:L400V;ENSP00000423199:L400V|ENSP00000426904:S62C	ENSP00000261367:L400V|ENSP00000378849:S62C	L|S	+|+	1|2	2|0	SNCAIP|SNCAIP	121789000|121789000	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.258000|0.258000	0.26162|0.26162	5.556000|5.556000	0.67307|0.67307	2.609000|2.609000	0.88269|0.88269	0.563000|0.563000	0.77884|0.77884	CTA|TCT		0.428	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			55	54	0	0	0	0.014410	0	55	54				
CEBPG	1054	broad.mit.edu	37	19	33870422	33870422	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:33870422A>T	ENST00000284000.4	+	2	939	c.277A>T	c.(277-279)Aga>Tga	p.R93*	CEBPG_ENST00000585933.2_Nonsense_Mutation_p.R93*	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	93	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				B cell differentiation (GO:0030183)|enucleate erythrocyte differentiation (GO:0043353)|immune response (GO:0006955)|liver development (GO:0001889)|mRNA metabolic process (GO:0016071)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA repair (GO:0045739)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CACACTGCAGAGAGTCAATCA	0.438																																						ENST00000284000.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7						c.(277-279)Aga>Tga		CCAAT/enhancer binding protein (C/EBP), gamma							102.0	90.0	94.0					19																	33870422		2203	4300	6503	SO:0001587	stop_gained	1054				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:33870422A>T	U20240	CCDS12432.1	19q13.2	2013-01-10				ENSG00000153879		"""basic leucine zipper proteins"""	1837	protein-coding gene	gene with protein product		138972				1884998	Standard	NM_001806		Approved	GPE1BP, IG/EBP-1	uc021usd.1	P53567		ENST00000284000.4:c.277A>T	19.37:g.33870422A>T	ENSP00000284000:p.Arg93*						p.R93*	NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN			2	939	+	Esophageal squamous(110;0.137)		93					B2R946|Q5U052	Nonsense_Mutation	SNP	ENST00000284000.4	37	c.277A>T	CCDS12432.1	.	.	.	.	.	.	.	.	.	.	A	37	6.176761	0.97348	.	.	ENSG00000153879	ENST00000284000	.	.	.	5.87	2.37	0.29283	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.0188	12.9724	0.58520	0.6163:0.3837:0.0:0.0	.	.	.	.	X	93	.	ENSP00000284000:R93X	R	+	1	2	CEBPG	38562262	1.000000	0.71417	0.987000	0.45799	0.826000	0.46750	4.307000	0.59123	0.517000	0.28361	0.533000	0.62120	AGA		0.438	CEBPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451427.2	NM_001806		9	12	0	0	0	0.006214	0	9	12				
NRG3	10718	broad.mit.edu	37	10	84745207	84745207	+	Missense_Mutation	SNP	G	G	T	rs150401464	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:84745207G>T	ENST00000404547.1	+	10	2009	c.2009G>T	c.(2008-2010)cGg>cTg	p.R670L	NRG3_ENST00000372141.2_Missense_Mutation_p.R646L|NRG3_ENST00000404576.2_Missense_Mutation_p.R450L|NRG3_ENST00000372142.2_Missense_Mutation_p.R449L|NRG3_ENST00000556918.1_Missense_Mutation_p.R476L|NRG3_ENST00000545131.1_Missense_Mutation_p.R296L|NRG3_ENST00000537893.1_Missense_Mutation_p.R296L			P56975	NRG3_HUMAN	neuregulin 3	670					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GATGCCAGACGGTCAGAAGAC	0.483																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1345-1347)cGg>cTg		neuregulin 3							72.0	69.0	70.0					10																	84745207		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745207G>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2009G>T	10.37:g.84745207G>T	ENSP00000384796:p.Arg670Leu					NRG3_ENST00000545131.1_Missense_Mutation_p.R296L|NRG3_ENST00000537893.1_Missense_Mutation_p.R296L|NRG3_ENST00000404547.1_Missense_Mutation_p.R670L|NRG3_ENST00000404576.2_Missense_Mutation_p.R450L|NRG3_ENST00000372141.2_Missense_Mutation_p.R646L|NRG3_ENST00000556918.1_Missense_Mutation_p.R476L	p.R449L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	11	1620	+			670					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1346G>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190993	0.58017	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.68903	0.27;0.44;0.5;-0.36;0.21;-0.18;-0.18	5.54	4.63	0.57726	.	0.071482	0.52532	D	0.000073	T	0.75874	0.3909	L	0.53249	1.67	0.53688	D	0.999976	B;D;P;D	0.71674	0.364;0.997;0.841;0.998	B;D;B;D	0.65987	0.168;0.919;0.358;0.94	T	0.78127	-0.2325	10	0.87932	D	0	-32.1113	12.5326	0.56124	0.0814:0.0:0.9186:0.0	.	645;670;449;646	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	L	646;670;645;449;450;476;296;296	ENSP00000361214:R646L;ENSP00000384796:R670L;ENSP00000361215:R449L;ENSP00000385804:R450L;ENSP00000451376:R476L;ENSP00000441201:R296L;ENSP00000440377:R296L	ENSP00000361214:R646L	R	+	2	0	NRG3	84735187	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.005000	0.63972	1.334000	0.45468	0.655000	0.94253	CGG		0.483	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		15	29	1	0	2.32078e-09	0.003163	2.51543e-09	15	29				
IGLL1	3543	broad.mit.edu	37	22	23915612	23915612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:23915612C>G	ENST00000330377.2	-	3	600	c.483G>C	c.(481-483)gaG>gaC	p.E161D	IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000454863.1_RNA|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	161	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCGTGGTCATCTCCACGCCCT	0.582																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(481-483)gaG>gaC		immunoglobulin lambda-like polypeptide 1							125.0	111.0	115.0					22																	23915612		2203	4300	6503	SO:0001583	missense	3543				immune response	extracellular region|membrane		g.chr22:23915612C>G	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.483G>C	22.37:g.23915612C>G	ENSP00000329312:p.Glu161Asp					IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	p.E161D	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			3	600	-			161			C region (By similarity to lambda light- chain).|Ig-like C1-type.		Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	c.483G>C	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	2.665	-0.278882	0.05642	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.03124	4.04;4.04	2.45	1.29	0.21616	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.849937	0.10216	N	0.701525	T	0.04182	0.0116	L	0.39467	1.215	0.26563	N	0.973695	B	0.02656	0.0	B	0.08055	0.003	T	0.36089	-0.9762	10	0.46703	T	0.11	.	8.8654	0.35282	0.0:0.765:0.235:0.0	.	161	P15814	IGLL1_HUMAN	D	161;162	ENSP00000329312:E161D;ENSP00000403391:E162D	ENSP00000329312:E161D	E	-	3	2	IGLL1	22245612	0.970000	0.33590	0.025000	0.17156	0.002000	0.02628	0.639000	0.24690	0.295000	0.22570	0.165000	0.16767	GAG		0.582	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		3	154	0	0	0	0.009096	0	3	154				
RPS6KC1	26750	broad.mit.edu	37	1	213277818	213277818	+	Silent	SNP	C	C	A	rs56056039	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:213277818C>A	ENST00000366960.3	+	4	435	c.285C>A	c.(283-285)atC>atA	p.I95I	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Silent_p.I83I	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	95	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAACTGTTATCGAAGAGAGAA	0.373													C|||	6	0.00119808	0.0	0.0058	5008	,	,		15385	0.0		0.002	False		,,,				2504	0.0					ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(283-285)atC>atA		ribosomal protein S6 kinase, 52kDa, polypeptide 1		C	,	0,4406		0,0,2203	179.0	170.0	173.0		249,285	-0.3	0.9	1	dbSNP_129	173	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	RPS6KC1	NM_001136138.1,NM_012424.3	,	0,12,6491	AA,AC,CC		0.1395,0.0,0.0923	,	83/1055,95/1067	213277818	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213277818C>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.285C>A	1.37:g.213277818C>A						RPS6KC1_ENST00000366959.3_Silent_p.I83I|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR	p.I95I	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	4	435	+			95			PX.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	c.285C>A	CCDS1513.1																																																																																				0.373	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		8	50	1	0	3.09899e-07	0.004482	3.32671e-07	8	50				
LAMA2	3908	broad.mit.edu	37	6	129635848	129635848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:129635848G>A	ENST00000421865.2	+	24	3509	c.3460G>A	c.(3460-3462)Gga>Aga	p.G1154R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1154	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGCAAATTCGGACTCGATGC	0.527																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3460-3462)Gga>Aga		laminin, alpha 2							72.0	67.0	68.0					6																	129635848		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129635848G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3460G>A	6.37:g.129635848G>A	ENSP00000400365:p.Gly1154Arg						p.G1154R	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	24	3509	+			1154			Laminin EGF-like 13.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3460G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043207	0.93685	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.57107	0.42	5.59	5.59	0.84812	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72798	-0.4184	10	0.62326	D	0.03	.	19.5763	0.95446	0.0:0.0:1.0:0.0	.	1154;1154	A6NF00;P24043	.;LAMA2_HUMAN	R	1154	ENSP00000400365:G1154R	ENSP00000346769:G1154R	G	+	1	0	LAMA2	129677541	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.425000	0.80255	2.646000	0.89796	0.655000	0.94253	GGA		0.527	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			9	37	0	0	0	0.006214	0	9	37				
ITGA2	3673	broad.mit.edu	37	5	52351412	52351412	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:52351412C>T	ENST00000296585.5	+	8	967	c.824C>T	c.(823-825)aCg>aTg	p.T275M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	275	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CGAAGTGCTACGAAAGTAATG	0.373																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(823-825)aCg>aTg		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							163.0	155.0	158.0					5																	52351412		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52351412C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.824C>T	5.37:g.52351412C>T	ENSP00000296585:p.Thr275Met						p.T275M	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			8	967	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	275			VWFA.		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.824C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110497	0.77210	.	.	ENSG00000164171	ENST00000296585	D	0.83591	-1.74	5.54	5.54	0.83059	von Willebrand factor, type A (3);	0.173963	0.52532	D	0.000076	D	0.89427	0.6712	M	0.73962	2.25	0.48830	D	0.999713	D;D	0.89917	0.996;1.0	D;P	0.63192	0.912;0.894	D	0.89829	0.3994	10	0.56958	D	0.05	.	14.331	0.66556	0.1483:0.8517:0.0:0.0	.	275;275	E7ESP4;P17301	.;ITA2_HUMAN	M	275	ENSP00000296585:T275M	ENSP00000296585:T275M	T	+	2	0	ITGA2	52387169	0.942000	0.31987	0.951000	0.38953	0.907000	0.53573	4.290000	0.59019	2.593000	0.87608	0.650000	0.86243	ACG		0.373	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		15	58	0	0	0	0.002450	0	15	58				
DOK6	220164	broad.mit.edu	37	18	67365664	67365664	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:67365664C>G	ENST00000382713.5	+	5	624	c.434C>G	c.(433-435)cCt>cGt	p.P145R	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	145	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TATCTTATGCCTACACCAAAC	0.398																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(433-435)cCt>cGt		docking protein 6							124.0	110.0	114.0					18																	67365664		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67365664C>G	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.434C>G	18.37:g.67365664C>G	ENSP00000372160:p.Pro145Arg					DOK6_ENST00000584435.1_3'UTR	p.P145R	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			5	624	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	145			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.434C>G	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902062	0.52227	.	.	ENSG00000206052	ENST00000382713	D	0.83419	-1.72	5.89	5.89	0.94794	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.84968	0.0881	10	0.22109	T	0.4	-26.9366	19.2242	0.93812	0.0:1.0:0.0:0.0	.	145	Q6PKX4	DOK6_HUMAN	R	145	ENSP00000372160:P145R	ENSP00000372160:P145R	P	+	2	0	DOK6	65516644	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.706000	0.84615	2.791000	0.96007	0.591000	0.81541	CCT		0.398	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		11	37	0	0	0	0.010729	0	11	37				
CPSF7	79869	broad.mit.edu	37	11	61188974	61188974	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:61188974G>C	ENST00000394888.4	-	3	333	c.161C>G	c.(160-162)cCt>cGt	p.P54R	CPSF7_ENST00000448745.1_Missense_Mutation_p.P54R|CPSF7_ENST00000541963.1_Missense_Mutation_p.P54R|CPSF7_ENST00000439958.3_Missense_Mutation_p.P54R|CPSF7_ENST00000340437.4_Missense_Mutation_p.P97R	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	54	Poly-Pro.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTGGCGAACAGGAGGAGGTGG	0.522																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(289-291)cCt>cGt		cleavage and polyadenylation specific factor 7, 59kDa							221.0	189.0	200.0					11																	61188974		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61188974G>C		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.161C>G	11.37:g.61188974G>C	ENSP00000378352:p.Pro54Arg					CPSF7_ENST00000439958.3_Missense_Mutation_p.P54R|CPSF7_ENST00000394888.4_Missense_Mutation_p.P54R|CPSF7_ENST00000541963.1_Missense_Mutation_p.P54R|CPSF7_ENST00000448745.1_Missense_Mutation_p.P54R	p.P97R	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			3	370	-			54			RRM.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.290C>G	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844738	0.32606	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232;ENST00000541963;ENST00000450000;ENST00000449811;ENST00000413184	T;T;T	0.40756	1.02;1.02;1.02	5.68	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);	0.415041	0.26331	N	0.024982	T	0.35451	0.0932	L	0.50333	1.59	0.38813	D	0.95545	P;B;B;B	0.48016	0.904;0.148;0.343;0.235	B;B;B;B	0.42625	0.393;0.018;0.112;0.101	T	0.18777	-1.0326	10	0.19590	T	0.45	.	9.2385	0.37481	0.0756:0.0:0.744:0.1804	.	54;54;97;54	F5H1W4;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	R	97;54;54;54;54;54;54;54;54;54;54;54	ENSP00000391359:P54R;ENSP00000392400:P54R;ENSP00000414295:P54R	ENSP00000345412:P97R	P	-	2	0	CPSF7	60945550	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.498000	0.66931	1.397000	0.46682	0.650000	0.86243	CCT		0.522	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		19	79	0	0	0	0.006122	0	19	79				
PITPNM3	83394	broad.mit.edu	37	17	6373604	6373604	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:6373604G>A	ENST00000262483.8	-	13	1836	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.D547D	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	583	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGCCACCACGTCTGTGGACT	0.652																																						ENST00000262483.8																			0											c.(1747-1749)gaC>gaT									92.0	65.0	74.0					17																	6373604		2203	4300	6503	SO:0001819	synonymous_variant	83394							g.chr17:6373604G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1749C>T	17.37:g.6373604G>A						ACKR6_ENST00000421306.3_Silent_p.D547D|ACKR6_ENST00000576664.1_5'UTR	p.D583D	NM_031220.3	NP_112497.2					13	1836	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.1749C>T	CCDS11076.1																																																																																				0.652	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		5	16	0	0	0	0.014758	0	5	16				
C4orf33	132321	broad.mit.edu	37	4	130023861	130023861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:130023861G>A	ENST00000281146.5	+	2	817	c.96G>A	c.(94-96)atG>atA	p.M32I	C4orf33_ENST00000425929.1_Missense_Mutation_p.M32I|C4orf33_ENST00000502887.1_Missense_Mutation_p.M32I	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	32										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GAGTGATGATGGACATTAGTG	0.438																																						ENST00000281146.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(94-96)atG>atA		chromosome 4 open reading frame 33							146.0	140.0	142.0					4																	130023861		2203	4300	6503	SO:0001583	missense	132321							g.chr4:130023861G>A	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.96G>A	4.37:g.130023861G>A	ENSP00000281146:p.Met32Ile					C4orf33_ENST00000502887.1_Missense_Mutation_p.M32I|C4orf33_ENST00000425929.1_Missense_Mutation_p.M32I	p.M32I	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN			2	817	+			32					D3DNY2|Q6PJF3|Q8NBC5	Missense_Mutation	SNP	ENST00000281146.5	37	c.96G>A	CCDS3741.1	.	.	.	.	.	.	.	.	.	.	g	6.961	0.547234	0.13312	.	.	ENSG00000151470	ENST00000281146;ENST00000502887;ENST00000425929;ENST00000508673;ENST00000508622	T;T;T;T;T	0.39056	2.44;2.13;2.44;1.1;1.14	4.59	3.75	0.43078	.	0.156200	0.64402	N	0.000001	T	0.31167	0.0788	L	0.37507	1.11	0.41248	D	0.986697	B;B	0.24721	0.046;0.11	B;B	0.22152	0.026;0.038	T	0.08493	-1.0719	10	0.20519	T	0.43	-51.8837	12.2169	0.54412	0.0851:0.0:0.9149:0.0	.	32;32	D6RIT3;Q8N1A6	.;CD033_HUMAN	I	32	ENSP00000281146:M32I;ENSP00000427406:M32I;ENSP00000401090:M32I;ENSP00000427096:M32I;ENSP00000427431:M32I	ENSP00000281146:M32I	M	+	3	0	C4orf33	130243311	1.000000	0.71417	0.965000	0.40720	0.125000	0.20455	4.021000	0.57196	1.288000	0.44600	-0.119000	0.15052	ATG		0.438	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	NM_173487		13	48	0	0	0	0.002450	0	13	48				
GRIP1	23426	broad.mit.edu	37	12	66990676	66990676	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:66990676C>T	ENST00000398016.3	-	2	155	c.87G>A	c.(85-87)caG>caA	p.Q29Q	GRIP1_ENST00000359742.4_Silent_p.Q29Q|GRIP1_ENST00000286445.7_Silent_p.Q29Q	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGGCTTTGTCTGGCTGGCGG	0.448																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(85-87)caG>caA		glutamate receptor interacting protein 1							106.0	110.0	108.0					12																	66990676		1901	4121	6022	SO:0001819	synonymous_variant	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66990676C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.87G>A	12.37:g.66990676C>T						GRIP1_ENST00000398016.3_Silent_p.Q29Q|GRIP1_ENST00000286445.7_Silent_p.Q29Q	p.Q29Q			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	2	327	-			29					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.87G>A	CCDS41807.1																																																																																				0.448	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			19	62	0	0	0	0.012319	0	19	62				
METTL21C	196541	broad.mit.edu	37	13	103338495	103338495	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr13:103338495G>A	ENST00000267273.6	-	4	686	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	227					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AGTCGGTGCTGAACCTGAATT	0.443																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(679-681)ttC>ttT		methyltransferase like 21C							82.0	75.0	77.0					13																	103338495		2203	4300	6503	SO:0001819	synonymous_variant	196541						methyltransferase activity	g.chr13:103338495G>A		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.681C>T	13.37:g.103338495G>A							p.F227F	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			4	686	-			227						Silent	SNP	ENST00000267273.6	37	c.681C>T	CCDS32003.1																																																																																				0.443	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		12	42	0	0	0	0.010729	0	12	42				
KRTAP10-6	386674	broad.mit.edu	37	21	46011649	46011649	+	Missense_Mutation	SNP	A	A	C	rs587622046	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr21:46011649A>C	ENST00000400368.1	-	1	737	c.717T>G	c.(715-717)tgT>tgG	p.C239W	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	239	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGTGGGCACACAGCACACAG	0.657																																						ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(715-717)tgT>tgG		keratin associated protein 10-6							145.0	146.0	146.0					21																	46011649		2203	4300	6503	SO:0001583	missense	386674					keratin filament		g.chr21:46011649A>C	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.717T>G	21.37:g.46011649A>C	ENSP00000383219:p.Cys239Trp					TSPEAR_ENST00000323084.4_Intron	p.C239W	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	737	-			239			29 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000400368.1	37	c.717T>G	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	a	3.133	-0.178059	0.06380	.	.	ENSG00000188155	ENST00000400368	T	0.02606	4.23	2.84	-3.52	0.04682	.	.	.	.	.	T	0.11452	0.0279	H	0.97587	4.035	0.09310	N	0.999992	P	0.44344	0.833	P	0.45406	0.479	T	0.01578	-1.1320	9	0.87932	D	0	.	8.181	0.31311	0.587:0.0:0.413:0.0	.	239	P60371	KR106_HUMAN	W	239	ENSP00000383219:C239W	ENSP00000383219:C239W	C	-	3	2	KRTAP10-6	44836077	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-0.692000	0.05127	-0.847000	0.04168	0.319000	0.21371	TGT		0.657	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		70	197	0	0	0	0.014410	0	70	197				
DNAH10	196385	broad.mit.edu	37	12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A	rs368019409		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:124333280G>A	ENST00000409039.3	+	33	5624	c.5599G>A	c.(5599-5601)Gtg>Atg	p.V1867M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1867	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5599-5601)Gtg>Atg		dynein, axonemal, heavy chain 10		G	MET/VAL	0,4140		0,0,2070	84.0	87.0	86.0		5599	3.9	0.1	12		86	2,8458		0,2,4228	no	missense	DNAH10	NM_207437.3	21	0,2,6298	AA,AG,GG		0.0236,0.0,0.0159	benign	1867/4472	124333280	2,12598	2070	4230	6300	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124333280G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5599G>A	12.37:g.124333280G>A	ENSP00000386770:p.Val1867Met						p.V1867M	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	33	5624	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1867			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5599G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058910	0.01950	0.0	2.36E-4	ENSG00000197653	ENST00000409039	T	0.10005	2.92	5.84	3.92	0.45320	ATPase, AAA+ type, core (1);	0.489978	0.19355	N	0.116292	T	0.02193	0.0068	N	0.00214	-1.84	0.39389	D	0.966384	B	0.32245	0.361	B	0.33890	0.172	T	0.42766	-0.9432	10	0.02654	T	1	.	10.4745	0.44657	0.2295:0.0:0.7705:0.0	.	1867	Q8IVF4	DYH10_HUMAN	M	1867	ENSP00000386770:V1867M	ENSP00000386770:V1867M	V	+	1	0	DNAH10	122899233	0.988000	0.35896	0.072000	0.20136	0.665000	0.39181	2.013000	0.40942	0.713000	0.32060	0.561000	0.74099	GTG		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	25	0	0	0	0.009096	0	4	25				
CCDC33	80125	broad.mit.edu	37	15	74559050	74559050	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:74559050G>A	ENST00000398814.3	+	4	782	c.351G>A	c.(349-351)aaG>aaA	p.K117K	CCDC33_ENST00000321288.5_Silent_p.K320K	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	320										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACAACAGAAAGAAACAGGAGT	0.473																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(958-960)aaG>aaA		coiled-coil domain containing 33							162.0	157.0	158.0					15																	74559050		1912	4130	6042	SO:0001819	synonymous_variant	80125						protein binding	g.chr15:74559050G>A	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.351G>A	15.37:g.74559050G>A						CCDC33_ENST00000398814.3_Silent_p.K117K	p.K320K			Q8N5R6	CCD33_HUMAN			6	960	+			320			C2.		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	c.960G>A	CCDS42058.1																																																																																				0.473	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		29	107	0	0	0	0.008361	0	29	107				
ZNF521	25925	broad.mit.edu	37	18	22806343	22806343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:22806343G>C	ENST00000361524.3	-	4	1687	c.1539C>G	c.(1537-1539)ttC>ttG	p.F513L	ZNF521_ENST00000584787.1_Missense_Mutation_p.F293L|ZNF521_ENST00000538137.2_Missense_Mutation_p.F513L|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	513					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGGACAAAAGAATGCATTAC	0.458			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1537-1539)ttC>ttG		zinc finger protein 521							81.0	85.0	84.0					18																	22806343		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806343G>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1539C>G	18.37:g.22806343G>C	ENSP00000354794:p.Phe513Leu					ZNF521_ENST00000538137.2_Missense_Mutation_p.F513L|ZNF521_ENST00000584787.1_Missense_Mutation_p.F293L	p.F513L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1687	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		513					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1539C>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	8.268	0.812606	0.16537	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.30981	1.51;1.51	5.87	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.34521	1.04	0.34795	D	0.736073	D	0.76494	0.999	D	0.85130	0.997	T	0.54866	-0.8229	10	0.72032	D	0.01	-25.4693	10.3523	0.43943	0.2012:0.0:0.7988:0.0	.	513	Q96K83	ZN521_HUMAN	L	513;547;513	ENSP00000354794:F513L;ENSP00000382352:F513L	ENSP00000354794:F513L	F	-	3	2	ZNF521	21060341	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.570000	0.60872	0.833000	0.34828	-0.127000	0.14921	TTC		0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		21	51	0	0	0	0.008871	0	21	51				
PLCE1	51196	broad.mit.edu	37	10	95791831	95791831	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:95791831G>C	ENST00000371380.3	+	1	1263	c.1028G>C	c.(1027-1029)gGa>gCa	p.G343A	PLCE1_ENST00000260766.3_Missense_Mutation_p.G343A			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	343					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGTATACTGGAACAAGAGCA	0.423																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(1027-1029)gGa>gCa		phospholipase C, epsilon 1							76.0	78.0	78.0					10																	95791831		1907	4124	6031	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791831G>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1028G>C	10.37:g.95791831G>C	ENSP00000360431:p.Gly343Ala					PLCE1_ENST00000371380.2_Missense_Mutation_p.G343A	p.G343A	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	1662	+		Colorectal(252;0.0458)	343					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1028G>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631390	0.67015	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.71103	-0.54;-0.54	5.14	5.14	0.70334	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.53938	D	0.000059	T	0.77356	0.4118	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.80788	-0.1226	10	0.87932	D	0	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	343;343	B7ZM61;Q9P212	.;PLCE1_HUMAN	A	343	ENSP00000260766:G343A;ENSP00000360431:G343A	ENSP00000260766:G343A	G	+	2	0	PLCE1	95781821	1.000000	0.71417	0.998000	0.56505	0.741000	0.42261	7.539000	0.82063	2.398000	0.81561	0.655000	0.94253	GGA		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		9	39	0	0	0	0.004482	0	9	39				
MAPK8IP3	23162	broad.mit.edu	37	16	1812845	1812845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:1812845G>A	ENST00000250894.4	+	16	1890	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R572H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	578					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGCTTCAGCCGCCTCTTCAGC	0.677																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(1732-1734)cGc>cAc		mitogen-activated protein kinase 8 interacting protein 3							48.0	64.0	59.0					16																	1812845		2005	4155	6160	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1812845G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1733G>A	16.37:g.1812845G>A	ENSP00000250894:p.Arg578His					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R572H	p.R578H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			16	1890	+			578					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1733G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885336	0.91814	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	D;D	0.88664	-2.41;-2.41	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.93772	0.8009	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.943;0.925;0.996	D	0.92926	0.6359	10	0.40728	T	0.16	-25.8058	18.7182	0.91684	0.0:0.0:1.0:0.0	.	579;572;578	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	H	578;572	ENSP00000250894:R578H;ENSP00000348290:R572H	ENSP00000250894:R578H	R	+	2	0	MAPK8IP3	1752846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.898000	0.87363	2.513000	0.84729	0.561000	0.74099	CGC		0.677	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		28	66	0	0	0	0.004656	0	28	66				
CKLF	51192	broad.mit.edu	37	16	66597116	66597116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:66597116G>A	ENST00000264001.4	+	3	478	c.329G>A	c.(328-330)gGa>gAa	p.G110E	CKLF_ENST00000563092.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF-CMTM1_ENST00000532838.1_Missense_Mutation_p.G57E|CKLF_ENST00000351137.4_Missense_Mutation_p.G57E|CKLF_ENST00000345436.4_Intron|CKLF_ENST00000362093.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.G110E	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	110	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ACAGTTGGTGGAGGGGTAAGT	0.368																																						ENST00000264001.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(328-330)gGa>gAa		chemokine-like factor							151.0	125.0	134.0					16																	66597116		2201	4300	6501	SO:0001583	missense	51192							g.chr16:66597116G>A	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"""chemokine-like factor 1"""	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.329G>A	16.37:g.66597116G>A	ENSP00000264001:p.Gly110Glu					CKLF_ENST00000351137.4_Missense_Mutation_p.G57E|CKLF_ENST00000345436.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.G110E|CKLF_ENST00000563092.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000532838.1_Missense_Mutation_p.G57E|CKLF_ENST00000362093.4_Intron	p.G110E	NM_016951.3	NP_058647.1				OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)	3	478	+		Ovarian(137;0.0563)						C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Missense_Mutation	SNP	ENST00000264001.4	37	c.329G>A	CCDS10807.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.418895	0.62622	.	.	ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000254788	ENST00000264001;ENST00000351137;ENST00000361141;ENST00000417030;ENST00000532838;ENST00000529718	T;T	0.72615	0.4;-0.67	5.02	5.02	0.67125	Marvel (1);	.	.	.	.	T	0.77805	0.4185	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.974;1.0	T	0.72050	-0.4407	9	0.07030	T	0.85	-29.1038	13.7178	0.62708	0.0:0.0:1.0:0.0	.	110;110;57	Q9UBR5-5;Q9UBR5;Q5BJH6	.;CKLF_HUMAN;.	E	110;57;110;110;57;29	ENSP00000264001:G110E;ENSP00000416678:G110E	ENSP00000433503:G29E	G	+	2	0	CKLF;CKLF-CMTM1	65154617	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	3.034000	0.49751	2.608000	0.88229	0.650000	0.86243	GGA		0.368	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268816.2	NM_016326		8	35	0	0	0	0.004482	0	8	35				
SETDB1	9869	broad.mit.edu	37	1	150900253	150900253	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:150900253G>A	ENST00000271640.5	+	2	253	c.63G>A	c.(61-63)gaG>gaA	p.E21E	SETDB1_ENST00000368963.1_Silent_p.E21E|SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Silent_p.E21E|SETDB1_ENST00000368962.2_Silent_p.E21E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	21					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCTGAAGAGATTGCAGAGC	0.463																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(61-63)gaG>gaA		SET domain, bifurcated 1							141.0	135.0	137.0					1																	150900253		2203	4300	6503	SO:0001819	synonymous_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150900253G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.63G>A	1.37:g.150900253G>A						SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Silent_p.E21E|SETDB1_ENST00000368962.2_Silent_p.E21E|SETDB1_ENST00000368963.1_Silent_p.E21E	p.E21E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	253	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		21					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	37	c.63G>A	CCDS44217.1																																																																																				0.463	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			17	92	0	0	0	0.004990	0	17	92				
PLCE1	51196	broad.mit.edu	37	10	95791437	95791437	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:95791437G>T	ENST00000371380.3	+	1	869	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	PLCE1_ENST00000260766.3_Missense_Mutation_p.D212Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	212					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.D212N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTTTAGACGATTGTGGAAA	0.388																																						ENST00000260766.3																			1	Substitution - Missense(1)	p.D212N(1)	NS(1)	liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(634-636)Gat>Tat		phospholipase C, epsilon 1							84.0	80.0	81.0					10																	95791437		1879	4102	5981	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791437G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.634G>T	10.37:g.95791437G>T	ENSP00000360431:p.Asp212Tyr					PLCE1_ENST00000371380.2_Missense_Mutation_p.D212Y	p.D212Y	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	1268	+		Colorectal(252;0.0458)	212					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.634G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	9.882	1.201795	0.22121	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.73469	-0.75;-0.75	4.98	4.03	0.46877	.	0.451574	0.18550	N	0.137934	T	0.73265	0.3565	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61800	0.894;0.894	T	0.74250	-0.3726	10	0.87932	D	0	.	9.2375	0.37475	0.1735:0.0:0.8265:0.0	.	212;212	B7ZM61;Q9P212	.;PLCE1_HUMAN	Y	212	ENSP00000260766:D212Y;ENSP00000360431:D212Y	ENSP00000260766:D212Y	D	+	1	0	PLCE1	95781427	1.000000	0.71417	0.995000	0.50966	0.032000	0.12392	2.783000	0.47766	1.144000	0.42321	-0.345000	0.07892	GAT		0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		16	45	1	0	1.62849e-17	0.004007	1.80585e-17	16	45				
SALL1	6299	broad.mit.edu	37	16	51174819	51174819	+	Silent	SNP	C	C	T	rs556441449		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:51174819C>T	ENST00000251020.4	-	2	1347	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.A341A|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	438					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A438A(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTACTTTTCGCTTCAAAGG	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21436	0.0		0.0	False		,,,				2504	0.0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - coding silent(1)	p.A438A(1)	large_intestine(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1021-1023)gcG>gcA		spalt-like transcription factor 1							109.0	103.0	105.0					16																	51174819		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174819C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1314G>A	16.37:g.51174819C>T						SALL1_ENST00000251020.4_Silent_p.A438A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.A341A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1454	-		all_cancers(37;0.0322)	438					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1023G>A	CCDS10747.1																																																																																				0.488	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		33	95	0	0	0	0.013726	0	33	95				
SIGLEC12	89858	broad.mit.edu	37	19	51994964	51994964	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:51994964C>T	ENST00000291707.3	-	8	1774	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	SIGLEC12_ENST00000598614.1_Silent_p.A455A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	573					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACTGAGGCCTCGCTTTGTGGA	0.597																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(1717-1719)gcG>gcA		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							111.0	96.0	101.0					19																	51994964		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:51994964C>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1719G>A	19.37:g.51994964C>T						SIGLEC12_ENST00000598614.1_Silent_p.A455A	p.A573A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	1774	-		all_neural(266;0.0199)	573					Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.1719G>A	CCDS12833.1																																																																																				0.597	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		16	159	0	0	0	0.006122	0	16	159				
HLA-G	3135	broad.mit.edu	37	6	29796372	29796372	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:29796372C>T	ENST00000360323.6	+	3	420	c.396C>T	c.(394-396)cgC>cgT	p.R132R	HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Silent_p.R137R|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000428701.1_Silent_p.R132R			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	132	Alpha-2.				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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|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)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCGACGGACGCCTCCTCCGCG	0.672																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(394-396)cgC>cgT		major histocompatibility complex, class I, G							105.0	107.0	107.0					6																	29796372		1510	2709	4219	SO:0001819	synonymous_variant	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|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.chr6:29796372C>T		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.396C>T	6.37:g.29796372C>T						HLA-G_ENST00000360323.6_Silent_p.R132R|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Silent_p.R137R	p.R132R	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			4	574	+			132			Alpha-2.			Silent	SNP	ENST00000360323.6	37	c.396C>T	CCDS4668.1																																																																																				0.672	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		23	83	0	0	0	0.003954	0	23	83				
AKAP2	11217	broad.mit.edu	37	9	112899295	112899295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:112899295G>C	ENST00000259318.7	+	2	985	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	AKAP2_ENST00000374525.1_Missense_Mutation_p.E349Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E491Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E491Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E491Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.E349Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E491Q	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	260										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GGAACATCTGGAGTCGCACAA	0.557																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1471-1473)Gag>Cag									37.0	40.0	39.0					9																	112899295		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112899295G>C	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.778G>C	9.37:g.112899295G>C	ENSP00000259318:p.Glu260Gln					AKAP2_ENST00000434623.2_Missense_Mutation_p.E349Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.E349Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E491Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.E260Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E491Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E491Q	p.E491Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1651	+			260					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1471G>C	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299632	0.81136	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.996;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.994;0.996;0.977;0.996;0.99;0.998;0.998;0.996	T	0.71477	-0.4581	10	0.72032	D	0.01	-33.5989	18.885	0.92372	0.0:0.0:1.0:0.0	.	260;349;343;349;350;491;491;309	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	Q	491;491;491;491;349;349;309;260	ENSP00000363654:E491Q;ENSP00000305861:E491Q;ENSP00000451476:E491Q;ENSP00000421522:E491Q;ENSP00000404782:E349Q;ENSP00000363649:E349Q;ENSP00000419268:E309Q;ENSP00000259318:E260Q	ENSP00000259318:E260Q	E	+	1	0	PALM2-AKAP2;AKAP2	111939116	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.389000	0.97243	2.691000	0.91804	0.655000	0.94253	GAG		0.557	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		11	18	0	0	0	0.013537	0	11	18				
POLR1A	25885	broad.mit.edu	37	2	86267597	86267597	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:86267597C>T	ENST00000263857.6	-	25	4036	c.3658G>A	c.(3658-3660)Gga>Aga	p.G1220R	POLR1A_ENST00000409681.1_Missense_Mutation_p.G1220R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1220					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGGGCTCTCCGATGCTCTGG	0.627																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(3658-3660)Gga>Aga		polymerase (RNA) I polypeptide A, 194kDa							50.0	61.0	57.0					2																	86267597		2079	4238	6317	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86267597C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3658G>A	2.37:g.86267597C>T	ENSP00000263857:p.Gly1220Arg					POLR1A_ENST00000409681.1_Missense_Mutation_p.G1220R	p.G1220R			O95602	RPA1_HUMAN			25	4036	-			1220					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.3658G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562819	0.86335	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.87491	-2.26;-2.26	5.57	5.57	0.84162	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.96442	0.8839	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97715	1.0193	10	0.87932	D	0	-29.3309	19.557	0.95354	0.0:1.0:0.0:0.0	.	586;1220	B7Z8X7;O95602	.;RPA1_HUMAN	R	1220	ENSP00000263857:G1220R;ENSP00000386300:G1220R	ENSP00000263857:G1220R	G	-	1	0	POLR1A	86121108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.630000	0.89119	0.655000	0.94253	GGA		0.627	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		11	41	0	0	0	0.008291	0	11	41				
CHEK2P2	646096	broad.mit.edu	37	15	20496770	20496770	+	RNA	SNP	T	T	C	rs3865047		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:20496770T>C	ENST00000555186.1	+	0	823					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TTATAGTGTGTATTTTAATTA	0.353																																						ENST00000555186.1																			0																																																			646096							g.chr15:20496770T>C			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496770T>C								NR_038836.1						0	823	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.353	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		8	12	0	0	0	0.003080	0	8	12				
BRWD3	254065	broad.mit.edu	37	X	79980467	79980467	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:79980467C>T	ENST00000373275.4	-	15	1702	c.1486G>A	c.(1486-1488)Gac>Aac	p.D496N	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	496					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTCCCCCGGTCAAGGTCCCAA	0.388																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1486-1488)Gac>Aac		bromodomain and WD repeat domain containing 3							99.0	86.0	91.0					X																	79980467		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79980467C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1486G>A	X.37:g.79980467C>T	ENSP00000362372:p.Asp496Asn						p.D496N	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			15	1702	-			496					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1486G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874287	0.33069	.	.	ENSG00000165288	ENST00000373275	T	0.42513	0.97	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.159177	0.56097	D	0.000024	T	0.29355	0.0731	N	0.17248	0.465	0.34480	D	0.703798	B	0.10296	0.003	B	0.09377	0.004	T	0.24476	-1.0159	9	.	.	.	-11.0384	17.9334	0.89005	0.0:1.0:0.0:0.0	.	496	Q6RI45	BRWD3_HUMAN	N	496	ENSP00000362372:D496N	.	D	-	1	0	BRWD3	79867123	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.042000	0.41222	2.425000	0.82216	0.600000	0.82982	GAC		0.388	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		8	14	0	0	0	0.004482	0	8	14				
AMBP	259	broad.mit.edu	37	9	116823771	116823771	+	Silent	SNP	G	G	A	rs374833274		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:116823771G>A	ENST00000265132.3	-	8	1048	c.786C>T	c.(784-786)ggC>ggT	p.G262G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	262	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCATGCAGCCGCCGTACTGGA	0.577																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(784-786)ggC>ggT		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	G		0,4406		0,0,2203	78.0	73.0	75.0		786	-4.8	0.9	9		75	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	AMBP	NM_001633.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		262/353	116823771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116823771G>A	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.786C>T	9.37:g.116823771G>A							p.G262G	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			8	1048	-			262			BPTI/Kunitz inhibitor 1.		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.786C>T	CCDS6800.1																																																																																				0.577	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		24	86	0	0	0	0.018920	0	24	86				
ABCC8	6833	broad.mit.edu	37	11	17418492	17418492	+	Missense_Mutation	SNP	C	C	G	rs138642224	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:17418492C>G	ENST00000389817.3	-	33	4158	c.4090G>C	c.(4090-4092)Gtc>Ctc	p.V1364L	ABCC8_ENST00000302539.4_Missense_Mutation_p.V1365L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1364	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGGGCATTGACGTGCTTCAGC	0.612																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4093-4095)Gtc>Ctc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						121.0	93.0	102.0					11																	17418492		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17418492C>G	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4090G>C	11.37:g.17418492C>G	ENSP00000374467:p.Val1364Leu					ABCC8_ENST00000389817.3_Missense_Mutation_p.V1364L	p.V1365L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	33	4218	-			1364			ABC transporter 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.4093G>C	CCDS31437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.99|12.99	2.104279|2.104279	0.37145|0.37145	.|.	.|.	ENSG00000006071|ENSG00000006071	ENST00000528374|ENST00000389817;ENST00000302539	.|D;D	.|0.94330	.|-3.4;-3.4	4.83|4.83	4.83|4.83	0.62350|0.62350	.|ABC transporter-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85057|0.85057	0.5610|0.5610	N|N	0.04387|0.04387	-0.21|-0.21	0.80722|0.80722	D|D	1|1	.|B	.|0.22080	.|0.064	.|B	.|0.26969	.|0.075	T|T	0.80679|0.80679	-0.1275|-0.1275	5|10	.|0.13470	.|T	.|0.59	.|.	18.2867|18.2867	0.90117|0.90117	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1364	.|Q09428	.|ABCC8_HUMAN	P|L	191|1364;1365	.|ENSP00000374467:V1364L;ENSP00000303960:V1365L	.|ENSP00000303960:V1365L	R|V	-|-	2|1	0|0	ABCC8|ABCC8	17375068|17375068	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.022000|0.022000	0.10575|0.10575	4.794000|4.794000	0.62482|0.62482	2.386000|2.386000	0.81285|0.81285	0.555000|0.555000	0.69702|0.69702	CGT|GTC		0.612	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		11	46	0	0	0	0.010729	0	11	46				
OSBPL2	9885	broad.mit.edu	37	20	60835072	60835072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:60835072G>A	ENST00000313733.3	+	3	275	c.73G>A	c.(73-75)Gag>Aag	p.E25K	OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	25					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGAATTTTCAGAGGCAAATCA	0.423																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(73-75)Gag>Aag		oxysterol binding protein-like 2							93.0	98.0	96.0					20																	60835072		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60835072G>A	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.73G>A	20.37:g.60835072G>A	ENSP00000316649:p.Glu25Lys					OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Intron	p.E25K	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		3	275	+	Breast(26;7.76e-09)		25					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.73G>A	CCDS13495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.725974|2.725974	0.48833|0.48833	.|.	.|.	ENSG00000130703|ENSG00000130703	ENST00000358053|ENST00000313733	.|T	.|0.44482	.|0.92	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.300125	.|0.27640	.|N	.|0.018468	.|T	.|0.42017	.|0.1184	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|P	.|0.36789	.|0.57	.|B	.|0.38264	.|0.269	.|T	.|0.27905	.|-1.0060	.|10	.|0.27082	.|T	.|0.32	.|-36.3345	15.2067|15.2067	0.73183|0.73183	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|25	.|Q9H1P3	.|OSBL2_HUMAN	.|K	-1|25	.|ENSP00000316649:E25K	.|ENSP00000316649:E25K	.|E	+|+	.|1	.|0	OSBPL2|OSBPL2	60268467|60268467	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.578000|0.578000	0.36192|0.36192	5.885000|5.885000	0.69736|0.69736	2.374000|2.374000	0.81015|0.81015	0.655000|0.655000	0.94253|0.94253	.|GAG		0.423	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		23	55	0	0	0	0.004656	0	23	55				
TRIP11	9321	broad.mit.edu	37	14	92461767	92461767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:92461767G>A	ENST00000267622.4	-	14	5358	c.4985C>T	c.(4984-4986)tCt>tTt	p.S1662F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1662				QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTTCCTGAGAGACAGAAAG	0.458			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4984-4986)tCt>tTt		thyroid hormone receptor interactor 11							121.0	102.0	109.0					14																	92461767		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92461767G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4985C>T	14.37:g.92461767G>A	ENSP00000267622:p.Ser1662Phe						p.S1662F	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	14	5358	-			1662	QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135).				B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.4985C>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063501	0.76187	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04862	3.54	5.82	5.82	0.92795	.	0.115069	0.64402	D	0.000010	T	0.25901	0.0631	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;0.997	D;D	0.76575	0.988;0.975	T	0.00124	-1.2023	10	0.31617	T	0.26	.	20.0951	0.97834	0.0:0.0:1.0:0.0	.	1398;1662	F5H1Z0;Q15643	.;TRIPB_HUMAN	F	1662;1398	ENSP00000267622:S1662F	ENSP00000267622:S1662F	S	-	2	0	TRIP11	91531520	1.000000	0.71417	0.438000	0.26821	0.682000	0.39822	9.644000	0.98468	2.766000	0.95052	0.650000	0.86243	TCT		0.458	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			24	23	0	0	0	0.014323	0	24	23				
CECR1	51816	broad.mit.edu	37	22	17662734	17662734	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:17662734T>A	ENST00000399839.1	-	9	1688	c.1418A>T	c.(1417-1419)aAa>aTa	p.K473I	CECR1_ENST00000399837.2_Missense_Mutation_p.K473I|CECR1_ENST00000262607.3_Missense_Mutation_p.K473I|CECR1_ENST00000330232.4_Missense_Mutation_p.K232I|CECR1_ENST00000449907.2_Missense_Mutation_p.K431I	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	473					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGCCAGCTGTTTGAGGGTCCT	0.547																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1417-1419)aAa>aTa		cat eye syndrome chromosome region, candidate 1							88.0	77.0	81.0					22																	17662734		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662734T>A	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1418A>T	22.37:g.17662734T>A	ENSP00000382733:p.Lys473Ile					CECR1_ENST00000449907.2_Missense_Mutation_p.K431I|CECR1_ENST00000330232.4_Missense_Mutation_p.K232I|CECR1_ENST00000262607.3_Missense_Mutation_p.K473I|CECR1_ENST00000399837.2_Missense_Mutation_p.K473I	p.K473I			Q9NZK5	CECR1_HUMAN			9	1688	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	473					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.1418A>T	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389421	0.82902	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86	3.71	3.71	0.42584	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.94964	3.605	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98755	1.0722	10	0.87932	D	0	.	12.4146	0.55486	0.0:0.0:0.0:1.0	.	473;232	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	I	473;232;473;431;473	ENSP00000382733:K473I;ENSP00000332871:K232I;ENSP00000262607:K473I;ENSP00000406443:K431I;ENSP00000382731:K473I	ENSP00000262607:K473I	K	-	2	0	CECR1	16042734	1.000000	0.71417	0.877000	0.34402	0.987000	0.75469	4.975000	0.63777	1.316000	0.45131	0.459000	0.35465	AAA		0.547	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			26	50	0	0	0	0.004656	0	26	50				
GLIS3	169792	broad.mit.edu	37	9	3937164	3937164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:3937164G>A	ENST00000324333.10	-	4	1464	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	GLIS3_ENST00000381971.3_Missense_Mutation_p.S579L|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	424					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCAAGCCTTGAAAAGGCCTT	0.458																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1270-1272)tCa>tTa		GLIS family zinc finger 3							85.0	86.0	86.0					9																	3937164		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3937164G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1271C>T	9.37:g.3937164G>A	ENSP00000325494:p.Ser424Leu					GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S579L	p.S424L	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	4	1464	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	424					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1271C>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986367	0.93044	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.41758	0.99;0.99	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40064	U	0.001189	T	0.49575	0.1565	N	0.11064	0.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.999	T	0.58983	-0.7539	10	0.87932	D	0	.	19.9697	0.97280	0.0:0.0:1.0:0.0	.	92;92;579;424	Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	L	424;579	ENSP00000325494:S424L;ENSP00000371398:S579L	ENSP00000325494:S424L	S	-	2	0	GLIS3	3927164	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.869000	0.99810	2.807000	0.96579	0.591000	0.81541	TCA		0.458	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		9	69	0	0	0	0.008291	0	9	69				
PAPPA2	60676	broad.mit.edu	37	1	176564443	176564443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:176564443G>A	ENST00000367662.3	+	3	2867	c.1703G>A	c.(1702-1704)aGc>aAc	p.S568N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S568N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	568	Metalloprotease.			S -> N (in Ref. 2; AAL17780). {ECO:0000305}.	bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGCAGCTGAGCGTCCACCAG	0.567																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1702-1704)aGc>aAc		pappalysin 2							83.0	86.0	85.0					1																	176564443		2139	4238	6377	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564443G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1703G>A	1.37:g.176564443G>A	ENSP00000356634:p.Ser568Asn					PAPPA2_ENST00000367661.3_Missense_Mutation_p.S568N	p.S568N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2867	+			568	S -> N (in Ref. 2; AAL17780).		Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1703G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722369	0.30503	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.47177	0.85;0.85	5.11	4.2	0.49525	.	0.247626	0.45606	D	0.000349	T	0.35278	0.0926	L	0.38175	1.15	0.31076	N	0.712453	B;B	0.16166	0.002;0.016	B;B	0.16722	0.009;0.016	T	0.33137	-0.9880	10	0.36615	T	0.2	-6.2429	8.3345	0.32206	0.2408:0.0:0.7592:0.0	.	568;568	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	568	ENSP00000356634:S568N;ENSP00000356633:S568N	ENSP00000356633:S568N	S	+	2	0	PAPPA2	174831066	0.006000	0.16342	0.783000	0.31826	0.865000	0.49528	0.365000	0.20348	1.148000	0.42385	0.557000	0.71058	AGC		0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			21	81	0	0	0	0.010504	0	21	81				
FAM135B	51059	broad.mit.edu	37	8	139263255	139263255	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:139263255A>C	ENST00000395297.1	-	6	541	c.371T>G	c.(370-372)tTg>tGg	p.L124W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	124										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACATCCCTCAACCTAGAAGG	0.592										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(370-372)tTg>tGg		family with sequence similarity 135, member B							81.0	92.0	88.0					8																	139263255		2150	4245	6395	SO:0001583	missense	51059							g.chr8:139263255A>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.371T>G	8.37:g.139263255A>C	ENSP00000378710:p.Leu124Trp	HNSCC(54;0.14)					p.L124W	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	541	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		124					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.371T>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953247	0.73902	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.18338	2.22	5.61	4.25	0.50352	.	0.000000	0.64402	D	0.000010	T	0.38348	0.1037	M	0.70595	2.14	0.44409	D	0.997324	D	0.89917	1.0	D	0.87578	0.998	T	0.12630	-1.0540	10	0.51188	T	0.08	-11.3562	11.373	0.49711	0.917:0.0:0.083:0.0	.	124	Q49AJ0	F135B_HUMAN	W	124	ENSP00000378710:L124W	ENSP00000160713:L124W	L	-	2	0	FAM135B	139332437	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.118000	0.71583	2.146000	0.66826	0.533000	0.62120	TTG		0.592	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		42	109	0	0	0	0.011902	0	42	109				
TAS2R31	259290	broad.mit.edu	37	12	11183044	11183044	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:11183044C>G	ENST00000390675.2	-	1	962	c.891G>C	c.(889-891)gtG>gtC	p.V297V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	297					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						CCCAGTACCTCACTTGCCGCA	0.428																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(889-891)gtG>gtC		taste receptor, type 2, member 31							201.0	203.0	202.0					12																	11183044		1969	4186	6155	SO:0001819	synonymous_variant	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183044C>G	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.891G>C	12.37:g.11183044C>G						TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.V297V	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	962	-			297					P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	c.891G>C	CCDS53747.1																																																																																				0.428	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		48	182	0	0	0	0.014410	0	48	182				
FGGY	55277	broad.mit.edu	37	1	59812064	59812064	+	Silent	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:59812064G>C	ENST00000303721.7	+	4	633	c.459G>C	c.(457-459)ctG>ctC	p.L153L	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371218.4_Silent_p.L153L|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	153					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTCTGTGGCTGAAAGAGGTGA	0.498																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(457-459)ctG>ctC		FGGY carbohydrate kinase domain containing							106.0	82.0	90.0					1																	59812064		2203	4300	6503	SO:0001819	synonymous_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812064G>C		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.459G>C	1.37:g.59812064G>C						FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Silent_p.L153L	p.L153L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			4	643	+	all_cancers(7;7.36e-05)		153					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	c.459G>C	CCDS611.2																																																																																				0.498	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		9	19	0	0	0	0.006214	0	9	19				
TTBK1	84630	broad.mit.edu	37	6	43214425	43214425	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:43214425G>A	ENST00000259750.4	+	2	110	c.27G>A	c.(25-27)aaG>aaA	p.K9K	TTBK1_ENST00000304139.5_5'Flank	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	9					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCGCCCTTAAGGACGAAACCA	0.672																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(25-27)aaG>aaA		tau tubulin kinase 1							34.0	32.0	33.0					6																	43214425		2203	4300	6503	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43214425G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.27G>A	6.37:g.43214425G>A							p.K9K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		2	110	+			9					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.27G>A	CCDS34455.1																																																																																				0.672	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			10	34	0	0	0	0.006214	0	10	34				
CD1D	912	broad.mit.edu	37	1	158152778	158152778	+	Missense_Mutation	SNP	C	C	T	rs139209490		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:158152778C>T	ENST00000368171.3	+	5	1217	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	240	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGTGGATGCGGGGTGAGCA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18495	0.001		0.0	False		,,,				2504	0.0					ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(718-720)Cgg>Tgg		CD1d molecule							118.0	109.0	112.0					1																	158152778		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152778C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.718C>T	1.37:g.158152778C>T	ENSP00000357153:p.Arg240Trp						p.R240W	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1217	+	all_hematologic(112;0.0378)		240			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.718C>T	CCDS1173.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.04	3.533843	0.64972	.	.	ENSG00000158473	ENST00000368171	T	0.03181	4.02	4.66	1.35	0.21983	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.45126	D	0.000384	T	0.13372	0.0324	M	0.93854	3.465	0.38373	D	0.944914	D	0.89917	1.0	D	0.85130	0.997	T	0.03112	-1.1071	10	0.87932	D	0	-38.3574	9.818	0.40865	0.5475:0.4525:0.0:0.0	.	240	P15813	CD1D_HUMAN	W	240	ENSP00000357153:R240W	ENSP00000357153:R240W	R	+	1	2	CD1D	156419402	0.412000	0.25392	0.999000	0.59377	0.966000	0.64601	0.094000	0.15107	0.614000	0.30107	0.655000	0.94253	CGG		0.632	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		5	142	0	0	0	0.014758	0	5	142				
PFKP	5214	broad.mit.edu	37	10	3178029	3178029	+	Splice_Site	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:3178029G>C	ENST00000381125.4	+	21	2300	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q	PFKP_ENST00000381072.1_Splice_Site_p.E160Q|PITRM1_ENST00000464395.1_5'Flank|PFKP_ENST00000381075.2_Splice_Site_p.E734Q	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	742	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AACGGATTTTGAGTAAGTTGG	0.453																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e23+1		phosphofructokinase, platelet							66.0	65.0	65.0					10																	3178029		2203	4300	6503	SO:0001630	splice_region_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3178029G>C	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2225+1G>C	10.37:g.3178029G>C						PFKP_ENST00000381125.4_Splice_Site_p.E742_splice|PFKP_ENST00000381072.1_Splice_Site_p.E160_splice	p.E734_splice	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	23	2424	+			742					B3KS15|Q5VSR7|Q5VSR8	Splice_Site	SNP	ENST00000381125.4	37	c.2201_splice	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.35|13.35	2.211047|2.211047	0.39102|0.39102	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072|ENST00000433193	D;D;D|.	0.81579|.	-1.51;-1.51;-1.51|.	4.92|4.92	4.02|4.02	0.46733|0.46733	Phosphofructokinase domain (1);|.	0.222293|.	0.37136|.	N|.	0.002223|.	T|T	0.63414|0.63414	0.2509|0.2509	M|M	0.69358|0.69358	2.11|2.11	0.35144|0.35144	D|D	0.769131|0.769131	B;B;B|.	0.15473|.	0.013;0.013;0.009|.	B;B;B|.	0.14023|.	0.01;0.01;0.004|.	T|T	0.70385|0.70385	-0.4886|-0.4886	10|5	0.51188|.	T|.	0.08|.	.|.	9.3559|9.3559	0.38166|0.38166	0.1624:0.0:0.8376:0.0|0.1624:0.0:0.8376:0.0	.|.	734;734;742|.	B3KS15;Q5VSR7;Q01813|.	.;.;K6PP_HUMAN|.	Q|F	742;731;734;160|94	ENSP00000370517:E742Q;ENSP00000370465:E734Q;ENSP00000370462:E160Q|.	ENSP00000370462:E160Q|.	E|L	+|+	1|3	0|2	PFKP|PFKP	3168029|3168029	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.764000|0.764000	0.43329|0.43329	6.503000|6.503000	0.73699|0.73699	1.067000|1.067000	0.40740|0.40740	0.462000|0.462000	0.41574|0.41574	GAG|TTG		0.453	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	Missense_Mutation	6	23	0	0	0	0.001168	0	6	23				
TTN	7273	broad.mit.edu	37	2	179474959	179474959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:179474959C>T	ENST00000591111.1	-	221	46595	c.46371G>A	c.(46369-46371)atG>atA	p.M15457I	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M8033I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M8225I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M8158I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M17098I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M14530I			Q8WZ42	TITIN_HUMAN	titin	15457	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCACCAGACATGACTGGTA	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(51292-51294)atG>atA		titin							197.0	191.0	193.0					2																	179474959		1937	4144	6081	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474959C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46371G>A	2.37:g.179474959C>T	ENSP00000465570:p.Met15457Ile					TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M15457I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M14530I|TTN_ENST00000342175.6_Missense_Mutation_p.M8225I|TTN_ENST00000359218.5_Missense_Mutation_p.M8158I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M8033I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.M17098I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		271	51518	-			15457			Ig-like 102.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.51294G>A		.	.	.	.	.	.	.	.	.	.	C	16.04	3.010140	0.54361	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61714	0.2369	N	0.17800	0.525	0.58432	D	0.999999	D;D;D;D	0.59357	0.985;0.985;0.985;0.985	D;D;D;D	0.72338	0.977;0.977;0.977;0.977	T	0.66460	-0.5918	9	0.87932	D	0	.	19.6974	0.96031	0.0:1.0:0.0:0.0	.	8033;8158;8225;15457	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14530;8033;8225;8158;8033	ENSP00000343764:M14530I;ENSP00000434586:M8033I;ENSP00000340554:M8225I;ENSP00000352154:M8158I	ENSP00000340554:M8225I	M	-	3	0	TTN	179183204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.650000	0.89964	0.655000	0.94253	ATG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		144	169	0	0	0	0.014410	0	144	169				
ZNF415	55786	broad.mit.edu	37	19	53612314	53612314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:53612314G>T	ENST00000500065.4	-	4	1317	c.984C>A	c.(982-984)taC>taA	p.Y328*	ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Y98*|ZNF415_ENST00000455735.2_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Y315*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Y340*|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTTTACATGTGTAAGGTTTCT	0.398																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1126-1128)taC>taA		zinc finger protein 415							82.0	76.0	78.0					19																	53612314		2203	4300	6503	SO:0001587	stop_gained	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612314G>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.984C>A	19.37:g.53612314G>T	ENSP00000439435:p.Tyr328*					ZNF415_ENST00000500065.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Y340*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Y98*|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Y315*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000597748.1_3'UTR	p.Y376*			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1448	-			376					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	ENST00000500065.4	37	c.1128C>A	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981671	0.74474	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.78	-0.648	0.11464	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7644	0.23558	0.4696:0.0:0.5304:0.0	.	.	.	.	X	328;328;376;340;376;315	.	ENSP00000243643:Y328X	Y	-	3	2	ZNF415	58304126	0.000000	0.05858	0.007000	0.13788	0.097000	0.18754	-0.656000	0.05342	0.079000	0.16929	0.491000	0.48974	TAC		0.398	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		40	41	1	0	5.71845e-15	0.005524	6.29967e-15	40	41				
SLC5A7	60482	broad.mit.edu	37	2	108608589	108608589	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:108608589A>G	ENST00000264047.2	+	3	482	c.206A>G	c.(205-207)aAt>aGt	p.N69S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.N69S|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	69					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGGTATATCAATGGCACAGCT	0.458																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(205-207)aAt>aGt		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						177.0	150.0	159.0					2																	108608589		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108608589A>G	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.206A>G	2.37:g.108608589A>G	ENSP00000264047:p.Asn69Ser					SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Missense_Mutation_p.N69S	p.N69S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			3	482	+			69					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.206A>G	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072690	0.76415	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.87571	-2.27;-2.27	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.86952	0.6057	L	0.52126	1.63	0.80722	D	1	P	0.42123	0.771	P	0.44422	0.449	D	0.86556	0.1838	10	0.44086	T	0.13	-0.4764	16.8061	0.85666	1.0:0.0:0.0:0.0	.	69	Q9GZV3	SC5A7_HUMAN	S	69	ENSP00000387346:N69S;ENSP00000264047:N69S	ENSP00000264047:N69S	N	+	2	0	SLC5A7	107975021	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	AAT		0.458	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			16	24	0	0	0	0.004990	0	16	24				
DMD	1756	broad.mit.edu	37	X	31986549	31986549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:31986549G>C	ENST00000357033.4	-	45	6727	c.6521C>G	c.(6520-6522)tCa>tGa	p.S2174*	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.S2170*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2174					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTGTTTTTGAGGATTGCTG	0.458																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6520-6522)tCa>tGa		dystrophin							109.0	97.0	101.0					X																	31986549		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31986549G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6521C>G	X.37:g.31986549G>C	ENSP00000354923:p.Ser2174*					DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.S2170*|DMD_ENST00000541735.1_5'UTR	p.S2174*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			45	6727	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2174					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.6521C>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	49	15.110781	0.99822	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.37	5.37	0.77165	.	0.000000	0.30356	U	0.009817	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.2351	0.89947	0.0:0.0:1.0:0.0	.	.	.	.	X	2166;833;830;2170;2174;2174;2051	.	ENSP00000354923:S2174X	S	-	2	0	DMD	31896470	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.453000	0.66645	2.244000	0.73946	0.538000	0.68166	TCA		0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		23	72	0	0	0	0.012319	0	23	72				
C7orf33	202865	broad.mit.edu	37	7	148288041	148288041	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:148288041C>G	ENST00000307003.2	+	1	385	c.24C>G	c.(22-24)ctC>ctG	p.L8L		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	8										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTCAAAGCCTCAGCCTTGAAG	0.537																																						ENST00000307003.2																			0				central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14						c.(22-24)ctC>ctG		chromosome 7 open reading frame 33							56.0	57.0	57.0					7																	148288041		2203	4300	6503	SO:0001819	synonymous_variant	202865							g.chr7:148288041C>G	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.24C>G	7.37:g.148288041C>G							p.L8L	NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	385	+	Melanoma(164;0.15)		8						Silent	SNP	ENST00000307003.2	37	c.24C>G	CCDS5890.1																																																																																				0.537	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		10	65	0	0	0	0.008291	0	10	65				
IDUA	3425	broad.mit.edu	37	4	995557	995557	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:995557C>G	ENST00000247933.4	+	6	768	c.680C>G	c.(679-681)aCc>aGc	p.T227S	IDUA_ENST00000514224.1_Missense_Mutation_p.T95S|IDUA_ENST00000453894.1_Missense_Mutation_p.T180S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	227					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCTTCCACACCCCACCGCGA	0.711																																						ENST00000453894.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(538-540)aCc>aGc		iduronidase, alpha-L-	Laronidase(DB00090)						11.0	12.0	12.0					4																	995557		2179	4278	6457	SO:0001583	missense	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:995557C>G	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.680C>G	4.37:g.995557C>G	ENSP00000247933:p.Thr227Ser					IDUA_ENST00000247933.4_Missense_Mutation_p.T227S|IDUA_ENST00000514224.1_Missense_Mutation_p.T95S	p.T180S			P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		5	627	+			227					B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	c.539C>G	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	C	2.787	-0.252139	0.05829	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000502910;ENST00000514192;ENST00000509948;ENST00000514224	D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	5.42	4.56	0.56223	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.259165	0.40144	N	0.001178	T	0.77987	0.4213	N	0.00446	-1.495	0.21802	N	0.999535	B;B	0.14438	0.01;0.004	B;B	0.13407	0.004;0.009	T	0.64769	-0.6329	10	0.02654	T	1	-0.0826	13.0835	0.59127	0.162:0.838:0.0:0.0	.	180;227	B3KWK6;P35475	.;IDUA_HUMAN	S	227;180;180;166;158;95	ENSP00000247933:T227S;ENSP00000396458:T180S;ENSP00000422952:T180S;ENSP00000423685:T166S;ENSP00000424227:T158S;ENSP00000425081:T95S	ENSP00000247933:T227S	T	+	2	0	IDUA	985557	0.026000	0.19158	0.537000	0.28052	0.006000	0.05464	3.007000	0.49536	1.262000	0.44165	0.555000	0.69702	ACC		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		3	16	0	0	0	0.009096	0	3	16				
KCTD5	54442	broad.mit.edu	37	16	2757382	2757382	+	3'UTR	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:2757382G>C	ENST00000301738.4	+	0	833				KCTD5_ENST00000564195.1_Missense_Mutation_p.E223Q	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5						protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAGATGTAATGAACTGCCATG	0.433																																					Ovarian(56;981 1456 4301 50892)	ENST00000564195.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(667-669)Gaa>Caa		potassium channel tetramerization domain containing 5							152.0	131.0	138.0					16																	2757382		692	1591	2283	SO:0001624	3_prime_UTR_variant	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2757382G>C	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"""potassium channel tetramerisation domain containing 5"""			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.*54G>C	16.37:g.2757382G>C						KCTD5_ENST00000301738.4_3'UTR	p.E223Q			Q9NXV2	KCTD5_HUMAN			5	676	+			0					D3DU96	Missense_Mutation	SNP	ENST00000301738.4	37	c.667G>C	CCDS10475.1																																																																																				0.433	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		9	25	0	0	0	0.006214	0	9	25				
TNIK	23043	broad.mit.edu	37	3	170802911	170802911	+	Silent	SNP	G	G	A	rs368574578		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:170802911G>A	ENST00000436636.2	-	25	3338	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	TNIK_ENST00000369326.5_Silent_p.A976A|TNIK_ENST00000538048.1_Silent_p.A950A|TNIK_ENST00000284483.8_Silent_p.A990A|TNIK_ENST00000357327.5_Silent_p.A969A|TNIK_ENST00000488470.1_Silent_p.A943A|TNIK_ENST00000460047.1_Silent_p.A935A|TNIK_ENST00000475336.1_Silent_p.A906A|TNIK_ENST00000470834.1_Silent_p.A961A|TNIK_ENST00000341852.6_Silent_p.A914A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	998	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A998A(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTTACCTGCGGCTGATGATT	0.483																																						ENST00000436636.2																			2	Substitution - coding silent(2)	p.A998A(2)	lung(2)	cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2992-2994)gcC>gcT		TRAF2 and NCK interacting kinase		G	,,,,,,,	0,3814		0,0,1907	59.0	60.0	59.0		2970,2907,2883,2829,2805,2742,2718,2994	-10.7	0.0	3		59	1,8245		0,1,4122	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TNIK	NM_001161560.1,NM_001161561.1,NM_001161562.1,NM_001161563.1,NM_001161564.1,NM_001161565.1,NM_001161566.1,NM_015028.2	,,,,,,,	0,1,6029	AA,AG,GG		0.0121,0.0,0.0083	,,,,,,,	990/1353,969/1332,961/1324,943/1306,935/1298,914/1277,906/1269,998/1361	170802911	1,12059	1907	4123	6030	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802911G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2994C>T	3.37:g.170802911G>A						TNIK_ENST00000341852.6_Silent_p.A914A|TNIK_ENST00000357327.5_Silent_p.A969A|TNIK_ENST00000488470.1_Silent_p.A943A|TNIK_ENST00000460047.1_Silent_p.A935A|TNIK_ENST00000470834.1_Silent_p.A961A|TNIK_ENST00000538048.1_Silent_p.A950A|TNIK_ENST00000475336.1_Silent_p.A906A|TNIK_ENST00000284483.8_Silent_p.A990A|TNIK_ENST00000369326.5_Silent_p.A976A	p.A998A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		25	3338	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		998			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.2994C>T	CCDS46956.1																																																																																				0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		3	8	0	0	0	0.004672	0	3	8				
DLK1	8788	broad.mit.edu	37	14	101201194	101201194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:101201194G>A	ENST00000341267.4	+	5	1355	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	RP11-566J3.4_ENST00000608876.1_lincRNA|DLK1_ENST00000331224.6_Missense_Mutation_p.M298I	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	371					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGATCGACATGACCACCTTCA	0.562																																						ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(1111-1113)atG>atA		delta-like 1 homolog (Drosophila)							95.0	94.0	95.0					14																	101201194		2203	4300	6503	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101201194G>A	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.1113G>A	14.37:g.101201194G>A	ENSP00000340292:p.Met371Ile					DLK1_ENST00000331224.6_Missense_Mutation_p.M298I	p.M371I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	1355	+		Melanoma(154;0.155)	371					P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.1113G>A	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418540	0.42918	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	D;D	0.86366	-2.11;-2.04	4.61	4.61	0.57282	.	0.173227	0.37012	N	0.002297	D	0.84211	0.5422	N	0.14661	0.345	0.80722	D	1	P;B	0.44281	0.831;0.07	P;B	0.54664	0.758;0.01	D	0.85537	0.1213	10	0.54805	T	0.06	.	11.6698	0.51395	0.0:0.0:0.823:0.177	.	298;371	P80370-2;P80370	.;DLK1_HUMAN	I	371;298	ENSP00000340292:M371I;ENSP00000331081:M298I	ENSP00000331081:M298I	M	+	3	0	DLK1	100270947	1.000000	0.71417	0.931000	0.37212	0.017000	0.09413	2.992000	0.49417	2.113000	0.64589	0.491000	0.48974	ATG		0.562	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			35	97	0	0	0	0.004878	0	35	97				
MKL1	57591	broad.mit.edu	37	22	40815316	40815316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:40815316G>A	ENST00000355630.3	-	12	1716	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	MKL1_ENST00000407029.1_Missense_Mutation_p.R376C|MKL1_ENST00000396617.3_Missense_Mutation_p.R376C|MKL1_ENST00000402042.1_Missense_Mutation_p.R326C	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	376	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTCGAAGGCGCTCAATCAGC	0.607			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1126-1128)Cgc>Tgc		megakaryoblastic leukemia (translocation) 1							45.0	47.0	46.0					22																	40815316		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40815316G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1126C>T	22.37:g.40815316G>A	ENSP00000347847:p.Arg376Cys					MKL1_ENST00000407029.1_Missense_Mutation_p.R376C|MKL1_ENST00000402042.1_Missense_Mutation_p.R326C|MKL1_ENST00000355630.3_Missense_Mutation_p.R376C	p.R376C			Q969V6	MKL1_HUMAN			12	1716	-			376			SAP.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1126C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780227	0.70222	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	D;D;D;D	0.88896	-2.29;-2.44;-2.29;-2.29	5.03	5.03	0.67393	DNA-binding SAP (4);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	H	0.95504	3.68	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;P	0.91635	0.999;0.91;0.807	D	0.96353	0.9260	10	0.87932	D	0	-26.8399	12.3777	0.55289	0.0:0.0:0.7111:0.2889	.	326;376;376	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	C	376;376;326;376	ENSP00000347847:R376C;ENSP00000379861:R376C;ENSP00000385584:R326C;ENSP00000385835:R376C	ENSP00000347847:R376C	R	-	1	0	MKL1	39145262	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.190000	0.50973	2.613000	0.88420	0.655000	0.94253	CGC		0.607	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		8	26	0	0	0	0.006214	0	8	26				
PLEC	5339	broad.mit.edu	37	8	144998292	144998292	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:144998292C>T	ENST00000322810.4	-	31	6385	c.6216G>A	c.(6214-6216)gaG>gaA	p.E2072E	PLEC_ENST00000354958.2_Silent_p.E1913E|PLEC_ENST00000398774.2_Silent_p.E1903E|PLEC_ENST00000436759.2_Silent_p.E1962E|PLEC_ENST00000356346.3_Silent_p.E1921E|PLEC_ENST00000527096.1_Silent_p.E1958E|PLEC_ENST00000357649.2_Silent_p.E1939E|PLEC_ENST00000354589.3_Silent_p.E1935E|PLEC_ENST00000345136.3_Silent_p.E1935E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2072	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCCGCCTTCTCGAAGCTCG	0.701																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(6214-6216)gaG>gaA		plectin							15.0	17.0	16.0					8																	144998292		2183	4262	6445	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144998292C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6216G>A	8.37:g.144998292C>T						PLEC_ENST00000354958.2_Silent_p.E1913E|PLEC_ENST00000345136.3_Silent_p.E1935E|PLEC_ENST00000354589.3_Silent_p.E1935E|PLEC_ENST00000356346.3_Silent_p.E1921E|PLEC_ENST00000527096.1_Silent_p.E1958E|PLEC_ENST00000398774.2_Silent_p.E1903E|PLEC_ENST00000357649.2_Silent_p.E1939E|PLEC_ENST00000436759.2_Silent_p.E1962E	p.E2072E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	6385	-			2072			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.6216G>A	CCDS43772.1																																																																																				0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	28	0	0	0	0.002450	0	15	28				
WDR16	146845	broad.mit.edu	37	17	9545105	9545105	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:9545105C>G	ENST00000352665.5	+	13	1709	c.1640C>G	c.(1639-1641)tCg>tGg	p.S547W	WDR16_ENST00000299764.5_Missense_Mutation_p.S557W|WDR16_ENST00000396219.3_Missense_Mutation_p.S479W|RP11-55L4.2_ENST00000584676.1_RNA	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGTCTGGGTCGATAAATGGC	0.458																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1639-1641)tCg>tGg		WD repeat domain 16							119.0	117.0	118.0					17																	9545105		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9545105C>G	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1640C>G	17.37:g.9545105C>G	ENSP00000339449:p.Ser547Trp					RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.S557W|WDR16_ENST00000396219.3_Missense_Mutation_p.S479W	p.S547W	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			13	1709	+			547						Missense_Mutation	SNP	ENST00000352665.5	37	c.1640C>G	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098255	0.76870	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.61158	0.13;0.13;0.13	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.227324	0.47093	D	0.000258	T	0.75324	0.3834	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.994	D;D;P	0.71870	0.931;0.975;0.868	T	0.75062	-0.3450	10	0.48119	T	0.1	-4.1529	18.3834	0.90457	0.0:1.0:0.0:0.0	.	557;479;547	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	W	547;479;557	ENSP00000339449:S547W;ENSP00000379521:S479W;ENSP00000299764:S557W	ENSP00000299764:S557W	S	+	2	0	WDR16	9485830	0.808000	0.29022	0.818000	0.32626	0.841000	0.47740	4.316000	0.59178	2.648000	0.89879	0.563000	0.77884	TCG		0.458	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		20	71	0	0	0	0.010504	0	20	71				
MARCH4	57574	broad.mit.edu	37	2	217124226	217124226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:217124226C>A	ENST00000273067.4	-	4	2808	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	348						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GTCTCCTCTTCCGAGGAGGGG	0.622																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(1042-1044)Gaa>Taa		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							55.0	55.0	55.0					2																	217124226		2203	4300	6503	SO:0001587	stop_gained	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124226C>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1042G>T	2.37:g.217124226C>A	ENSP00000273067:p.Glu348*						p.E348*	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2808	-		Renal(323;0.0854)	348					Q4KMN7|Q86WR8	Nonsense_Mutation	SNP	ENST00000273067.4	37	c.1042G>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	50	17.027578	0.99877	.	.	ENSG00000144583	ENST00000273067	.	.	.	5.62	3.81	0.43845	.	0.898941	0.09702	N	0.766830	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-21.9528	6.7176	0.23312	0.1451:0.695:0.0:0.1599	.	.	.	.	X	348	.	ENSP00000273067:E348X	E	-	1	0	MARCH4	216832471	0.054000	0.20591	0.001000	0.08648	0.449000	0.32228	1.710000	0.37920	0.722000	0.32252	0.561000	0.74099	GAA		0.622	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		18	27	1	0	5.35267e-07	0.007413	5.70951e-07	18	27				
SSH3	54961	broad.mit.edu	37	11	67077772	67077772	+	Nonsense_Mutation	SNP	G	G	T	rs148598265		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:67077772G>T	ENST00000308127.4	+	13	1823	c.1645G>T	c.(1645-1647)Gag>Tag	p.E549*	SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	549					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCTCCTTGGAGCTGGAGAG	0.632																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1645-1647)Gag>Tag		slingshot protein phosphatase 3							54.0	59.0	57.0					11																	67077772		2200	4295	6495	SO:0001587	stop_gained	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67077772G>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1645G>T	11.37:g.67077772G>T	ENSP00000312081:p.Glu549*					SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	p.E549*	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1823	+			549					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Nonsense_Mutation	SNP	ENST00000308127.4	37	c.1645G>T	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	37	6.506505	0.97620	.	.	ENSG00000172830	ENST00000308127	.	.	.	3.93	3.93	0.45458	.	0.474047	0.15329	N	0.268121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-23.2918	11.677	0.51436	0.0:0.0:1.0:0.0	.	.	.	.	X	549	.	ENSP00000312081:E549X	E	+	1	0	SSH3	66834348	0.671000	0.27521	0.626000	0.29213	0.709000	0.40893	4.538000	0.60650	2.225000	0.72522	0.555000	0.69702	GAG		0.632	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		13	188	1	0	4.3838e-07	0.016723	4.69095e-07	13	188				
TRMU	55687	broad.mit.edu	37	22	46751462	46751462	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:46751462G>C	ENST00000290846.4	+	9	1335	c.995G>C	c.(994-996)cGa>cCa	p.R332P	TRMU_ENST00000381019.3_Missense_Mutation_p.R332P	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	332					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TGCCACTTCCGATTCCGCCAC	0.642											OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(994-996)cGa>cCa		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							57.0	53.0	54.0					22																	46751462		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46751462G>C	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.995G>C	22.37:g.46751462G>C	ENSP00000290846:p.Arg332Pro		OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941	TRMU_ENST00000381019.3_Missense_Mutation_p.R332P	p.R332P	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	9	1335	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	332					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.995G>C	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216850	0.95104	.	.	ENSG00000100416	ENST00000290846;ENST00000381019	T;T	0.74526	-0.85;-0.85	5.5	5.5	0.81552	.	0.055023	0.64402	D	0.000001	D	0.88588	0.6477	M	0.87038	2.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.981;0.997	D	0.90132	0.4207	10	0.87932	D	0	-19.5743	19.0082	0.92861	0.0:0.0:1.0:0.0	.	178;178;332;332	O75648-3;O75648-4;O75648-2;O75648	.;.;.;MTU1_HUMAN	P	332	ENSP00000290846:R332P;ENSP00000370407:R332P	ENSP00000290846:R332P	R	+	2	0	TRMU	45130126	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	7.338000	0.79269	2.597000	0.87782	0.563000	0.77884	CGA		0.642	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		19	33	0	0	0	0.010504	0	19	33				
PPP1R1A	5502	broad.mit.edu	37	12	54975892	54975892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:54975892G>A	ENST00000257905.8	-	5	441	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	91					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						TGCCCCAGGTGATGTTCAACC	0.592																																						ENST00000257905.8																			0				lung(2)	2						c.(271-273)Cac>Tac		protein phosphatase 1, regulatory (inhibitor) subunit 1A							37.0	40.0	39.0					12																	54975892		1924	4135	6059	SO:0001583	missense	5502				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr12:54975892G>A	U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.271C>T	12.37:g.54975892G>A	ENSP00000257905:p.His91Tyr					PPP1R1A_ENST00000547431.1_Intron	p.H91Y	NM_006741.3	NP_006732.3	Q13522	PPR1A_HUMAN			5	441	-			91					Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	ENST00000257905.8	37	c.271C>T	CCDS44912.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343559	0.82022	.	.	ENSG00000135447	ENST00000257905	T	0.59502	0.26	5.54	5.54	0.83059	.	0.067262	0.64402	D	0.000014	T	0.72716	0.3495	M	0.68317	2.08	0.42513	D	0.992971	D	0.61080	0.989	D	0.64595	0.927	T	0.75218	-0.3395	10	0.87932	D	0	.	15.3582	0.74443	0.0:0.0:1.0:0.0	.	91	Q13522	PPR1A_HUMAN	Y	91	ENSP00000257905:H91Y	ENSP00000257905:H91Y	H	-	1	0	PPP1R1A	53262159	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.623000	0.67757	2.778000	0.95560	0.655000	0.94253	CAC		0.592	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406604.1	NM_006741		12	27	0	0	0	0.002450	0	12	27				
TCN1	6947	broad.mit.edu	37	11	59631479	59631479	+	Missense_Mutation	SNP	C	C	T	rs200856109	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:59631479C>T	ENST00000257264.3	-	2	264	c.160G>A	c.(160-162)Gct>Act	p.A54T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	54	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATTGACAGCGCTGGTTCCC	0.418													C|||	3	0.000599042	0.0	0.0	5008	,	,		18913	0.002		0.0	False		,,,				2504	0.001					ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(160-162)Gct>Act		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						248.0	238.0	242.0					11																	59631479		2201	4294	6495	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59631479C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.160G>A	11.37:g.59631479C>T	ENSP00000257264:p.Ala54Thr					TCN1_ENST00000532419.1_5'UTR	p.A54T	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			2	264	-		all_epithelial(135;0.198)	54					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.160G>A	CCDS7978.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.185	0.794717	0.16327	.	.	ENSG00000134827	ENST00000257264	T	0.36157	1.27	4.54	-2.35	0.06684	.	0.787698	0.11134	N	0.595985	T	0.14570	0.0352	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.32903	-0.9889	10	0.05436	T	0.98	.	4.3538	0.11169	0.2936:0.36:0.0:0.3464	.	54	P20061	TCO1_HUMAN	T	54	ENSP00000257264:A54T	ENSP00000257264:A54T	A	-	1	0	TCN1	59388055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.968000	0.03817	-0.651000	0.05415	-1.966000	0.00469	GCT		0.418	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		45	150	0	0	0	0.009718	0	45	150				
ACVR1C	130399	broad.mit.edu	37	2	158390507	158390507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:158390507C>T	ENST00000243349.8	-	9	1765	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	ACVR1C_ENST00000335450.7_Missense_Mutation_p.G389R|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G419R|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G312R	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CGGGCCGCTCCGTTGGCATAC	0.388																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1405-1407)Gga>Aga		activin A receptor, type IC							91.0	100.0	97.0					2																	158390507		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158390507C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1405G>A	2.37:g.158390507C>T	ENSP00000243349:p.Gly469Arg					ACVR1C_ENST00000335450.7_Missense_Mutation_p.G389R|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G312R|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G419R	p.G469R	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			9	1765	-			469			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1405G>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457483	0.84317	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000061	D	0.94404	0.8200	N	0.25890	0.77	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74348	0.975;0.954;0.983	D	0.95247	0.8356	10	0.72032	D	0.01	.	18.9895	0.92786	0.0:1.0:0.0:0.0	.	312;389;469	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	R	469;419;312;389	ENSP00000243349:G469R;ENSP00000387168:G419R;ENSP00000335139:G312R;ENSP00000335178:G389R	ENSP00000243349:G469R	G	-	1	0	ACVR1C	158098753	0.637000	0.27216	0.997000	0.53966	0.882000	0.50991	1.922000	0.40045	2.574000	0.86865	0.591000	0.81541	GGA		0.388	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		17	109	0	0	0	0.006122	0	17	109				
C6	729	broad.mit.edu	37	5	41143093	41143093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:41143093C>G	ENST00000263413.3	-	18	2903	c.2639G>C	c.(2638-2640)tGt>tCt	p.C880S	C6_ENST00000337836.5_Missense_Mutation_p.C880S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	880	C5b-binding domain.|Factor I module (FIM) 2.|Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAGGCAGACACATTTGGAAGT	0.458																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2638-2640)tGt>tCt		complement component 6							113.0	99.0	104.0					5																	41143093		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41143093C>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2639G>C	5.37:g.41143093C>G	ENSP00000263413:p.Cys880Ser					C6_ENST00000337836.5_Missense_Mutation_p.C880S	p.C880S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			18	2903	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	880			C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2639G>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024453	0.75390	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.72835	-0.69;-0.69	5.71	5.71	0.89125	Factor I / membrane attack complex (1);	2.332300	0.01464	N	0.016011	T	0.81772	0.4893	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67787	-0.5580	10	0.72032	D	0.01	-14.6488	19.472	0.94966	0.0:1.0:0.0:0.0	.	880	P13671	CO6_HUMAN	S	880	ENSP00000338861:C880S;ENSP00000263413:C880S	ENSP00000263413:C880S	C	-	2	0	C6	41178850	0.995000	0.38212	0.938000	0.37757	0.783000	0.44284	5.109000	0.64615	2.712000	0.92718	0.650000	0.86243	TGT		0.458	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			12	53	0	0	0	0.013537	0	12	53				
ROCK2	9475	broad.mit.edu	37	2	11389837	11389837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:11389837delA	ENST00000315872.6	-	4	860	c.412delT	c.(412-414)tggfs	p.W138fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTCTTCCCAAAAAAAGGCA	0.358																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(412-414)ggfs		Rho-associated, coiled-coil containing protein kinase 2							128.0	123.0	125.0					2																	11389837		1859	4116	5975	SO:0001589	frameshift_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11389837delA	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.412delT	2.37:g.11389837delA	ENSP00000317985:p.Trp138fs					ROCK2_ENST00000462366.1_5'UTR	p.W138fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	4	860	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		138			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Del	DEL	ENST00000315872.6	37	c.412delT	CCDS42654.1																																																																																				0.358	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			32	118						32	118	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190660652	190660653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:190660652_190660653insG	ENST00000441310.2	+	3	523_524	c.290_291insG	c.(289-294)ttggggfs	p.LG97fs	PMS1_ENST00000447232.2_Frame_Shift_Ins_p.LG97fs|PMS1_ENST00000374826.4_Frame_Shift_Ins_p.LG97fs|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409823.3_Frame_Shift_Ins_p.LG97fs|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409985.1_Frame_Shift_Ins_p.LG97fs	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	97					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAAGCCTTGGGGTCAATTT	0.342			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(289-291)tggfs	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)																																				SO:0001589	frameshift_variant	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190660652_190660653insG		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.294dupG	2.37:g.190660656_190660656dupG	ENSP00000406490:p.Leu97fs					PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000374826.4_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409985.1_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000447232.2_Frame_Shift_Ins_p.W97fs	p.W97fs	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		3	523_524	+			97					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Frame_Shift_Ins	INS	ENST00000441310.2	37	c.290_291insG	CCDS2302.1																																																																																				0.342	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			35	84						35	84	---	---	---	---
PARL	55486	broad.mit.edu	37	3	183551318	183551318	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:183551318delA	ENST00000317096.4	-	9	1050	c.990delT	c.(988-990)tttfs	p.F330fs	PARL_ENST00000435888.1_Frame_Shift_Del_p.F246fs|PARL_ENST00000311101.5_Frame_Shift_Del_p.F280fs	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	330					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCATGATCAAAAAATTTCC	0.473																																						ENST00000317096.4																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(988-990)ttfs		presenilin associated, rhomboid-like							117.0	101.0	106.0					3																	183551318		2203	4300	6503	SO:0001589	frameshift_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183551318delA	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.990delT	3.37:g.183551318delA	ENSP00000325421:p.Phe330fs					PARL_ENST00000435888.1_Frame_Shift_Del_p.F246fs|PARL_ENST00000311101.5_Frame_Shift_Del_p.F280fs	p.F330fs	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		9	1050	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		330					Q96CQ4|Q9BTJ6|Q9P1E3	Frame_Shift_Del	DEL	ENST00000317096.4	37	c.990delT	CCDS3248.1																																																																																				0.473	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		25	59						25	59	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A	rs551348450	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:76599857_76599858insA	ENST00000369977.3	+	26	2881_2882	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	MYO6_ENST00000369985.4_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369981.3_Frame_Shift_Ins_p.K915fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	915					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	18	0.00359425	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0061					ENST00000369981.3																			1	Deletion - Frameshift(1)	p.K917fs*10(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2740-2745)caaaaafs		myosin VI				9,4255		0,9,2123						5.8	1.0			86	31,8223		0,31,4096	no	frameshift	MYO6	NM_004999.3		0,40,6219	A1A1,A1R,RR		0.3756,0.2111,0.3195				40,12478				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599857_76599858insA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2751dupA	6.37:g.76599866_76599866dupA	ENSP00000358994:p.Lys915fs					MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs	p.QK914fs			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+		all_hematologic(105;0.189)	914					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	ENST00000369977.3	37	c.2742_2743insA	CCDS34487.1																																																																																				0.381	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		7	66						7	66	---	---	---	---
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs34310564	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:94904432delG	ENST00000416438.2	+	0	184				snoU13_ENST00000459125.1_RNA	NR_027341.1				long intergenic non-protein coding RNA 475																		GGCCTTCTTTGGGGGGGGGGT	0.612													|||unknown(HR)	1764	0.352236	0.3396	0.4957	5008	,	,		14095	0.371		0.2286	False		,,,				2504	0.3753					ENST00000416438.2																			0																																																			158314							g.chr9:94904432delG	AK023662		9q22.31	2012-10-12	2011-08-31	2011-08-31	ENSG00000225511	ENSG00000225511		"""Long non-coding RNAs"""	23569	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 44"""	C9orf44			Standard	NR_027341		Approved		uc004arp.1		OTTHUMG00000020216		9.37:g.94904432delG								NR_027341.1						0	184	+									RNA	DEL	ENST00000416438.2	37																																																																																						0.612	LINC00475-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000053051.2			6	0						6	0	---	---	---	---
CDK4	1019	broad.mit.edu	37	12	58145367	58145369	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:58145367_58145369delCCT	ENST00000257904.6	-	2	497_499	c.132_134delAGG	c.(130-135)ggaggt>ggt	p.44_45GG>G	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_In_Frame_Del_p.44_45GG>G|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	44	Poly-Gly.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCCTCCTCCACCTCCTCCTCCAT	0.567			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(130-135)ggt>gg		cyclin-dependent kinase 4																																				SO:0001651	inframe_deletion	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58145367_58145369delCCT	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.132_134delAGG	12.37:g.58145373_58145375delCCT	ENSP00000257904:p.Gly48del					CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_In_Frame_Del_p.GG46del|CDK4_ENST00000549606.1_Intron	p.GG46del	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		2	497_499	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		46			Poly-Gly.|Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	In_Frame_Del	DEL	ENST00000257904.6	37	c.132_134delAGG	CCDS8953.1																																																																																				0.567	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		20	68						20	68	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000541383.1_RNA|RP11-173P15.3_ENST00000535720.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		7	200						7	200	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43820775	43820775	+	Frame_Shift_Del	DEL	C	C	-	rs561219457		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:43820775delC	ENST00000300231.5	+	4	7554	c.7104delC	c.(7102-7104)aacfs	p.N2368fs	MAP1A_ENST00000399453.1_Frame_Shift_Del_p.N2368fs|MAP1A_ENST00000382031.1_Frame_Shift_Del_p.N2606fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2368					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCCCTAACCCCCCAGGCC	0.642																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(7816-7818)aafs		microtubule-associated protein 1A	Estramustine(DB01196)						27.0	31.0	30.0					15																	43820775		1963	4133	6096	SO:0001589	frameshift_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820775delC	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7104delC	15.37:g.43820775delC	ENSP00000300231:p.Asn2368fs					MAP1A_ENST00000300231.5_Frame_Shift_Del_p.N2368fs|MAP1A_ENST00000399453.1_Frame_Shift_Del_p.N2368fs	p.N2606fs			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7849	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2368					O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Del	DEL	ENST00000300231.5	37	c.7818delC	CCDS42031.1																																																																																				0.642	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		12	38						12	38	---	---	---	---
TRIM65	201292	broad.mit.edu	37	17	73888194	73888194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:73888194delG	ENST00000269383.3	-	4	882	c.817delC	c.(817-819)ctgfs	p.L273fs		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	273						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTCACCCAGCTGTTGGTCT	0.632																																						ENST00000269383.3																			0				endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(817-819)tgfs		tripartite motif containing 65							20.0	21.0	20.0					17																	73888194		2173	4260	6433	SO:0001589	frameshift_variant	201292					intracellular	zinc ion binding	g.chr17:73888194delG	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.817delC	17.37:g.73888194delG	ENSP00000269383:p.Leu273fs						p.L273fs	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	882	-			273					Q4G0F0|Q6DKJ6|Q9BRP6	Frame_Shift_Del	DEL	ENST00000269383.3	37	c.817delC	CCDS11732.1																																																																																				0.632	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		2	4						2	4	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190660652	190660653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:190660652_190660653insG	ENST00000441310.2	+	3	523_524	c.290_291insG	c.(289-294)ttggggfs	p.LG97fs	PMS1_ENST00000447232.2_Frame_Shift_Ins_p.LG97fs|PMS1_ENST00000374826.4_Frame_Shift_Ins_p.LG97fs|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409823.3_Frame_Shift_Ins_p.LG97fs|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409985.1_Frame_Shift_Ins_p.LG97fs	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	97					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAAGCCTTGGGGTCAATTT	0.342			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(289-291)tggfs	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)																																				SO:0001589	frameshift_variant	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190660652_190660653insG		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.294dupG	2.37:g.190660656_190660656dupG	ENSP00000406490:p.Leu97fs					PMS1_ENST00000447232.2_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000374826.4_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000409985.1_Frame_Shift_Ins_p.W97fs	p.W97fs	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		3	523_524	+			97					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Frame_Shift_Ins	INS	ENST00000441310.2	37	c.290_291insG	CCDS2302.1																																																																																				0.342	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			35	84						35	84	---	---	---	---
PARL	55486	broad.mit.edu	37	3	183551318	183551318	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:183551318delA	ENST00000317096.4	-	9	1050	c.990delT	c.(988-990)tttfs	p.F330fs	PARL_ENST00000435888.1_Frame_Shift_Del_p.F246fs|PARL_ENST00000311101.5_Frame_Shift_Del_p.F280fs	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	330					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCATGATCAAAAAATTTCC	0.473																																						ENST00000317096.4																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(988-990)ttfs		presenilin associated, rhomboid-like							117.0	101.0	106.0					3																	183551318		2203	4300	6503	SO:0001589	frameshift_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183551318delA	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.990delT	3.37:g.183551318delA	ENSP00000325421:p.Phe330fs					PARL_ENST00000435888.1_Frame_Shift_Del_p.F246fs|PARL_ENST00000311101.5_Frame_Shift_Del_p.F280fs	p.F330fs	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		9	1050	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		330					Q96CQ4|Q9BTJ6|Q9P1E3	Frame_Shift_Del	DEL	ENST00000317096.4	37	c.990delT	CCDS3248.1																																																																																				0.473	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		25	59						25	59	---	---	---	---
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs34310564	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:94904432delG	ENST00000416438.2	+	0	184				snoU13_ENST00000459125.1_RNA	NR_027341.1				long intergenic non-protein coding RNA 475																		GGCCTTCTTTGGGGGGGGGGT	0.612													|||unknown(HR)	1764	0.352236	0.3396	0.4957	5008	,	,		14095	0.371		0.2286	False		,,,				2504	0.3753					ENST00000416438.2																			0																																																			158314							g.chr9:94904432delG	AK023662		9q22.31	2012-10-12	2011-08-31	2011-08-31	ENSG00000225511	ENSG00000225511		"""Long non-coding RNAs"""	23569	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 44"""	C9orf44			Standard	NR_027341		Approved		uc004arp.1		OTTHUMG00000020216		9.37:g.94904432delG								NR_027341.1						0	184	+									RNA	DEL	ENST00000416438.2	37																																																																																						0.612	LINC00475-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000053051.2			6	0						6	0	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(877-882)gtg>gt		transmembrane protein 121				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1043_1045	+		Melanoma(154;0.226)	293			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																				0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		7	14						7	14	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43820775	43820775	+	Frame_Shift_Del	DEL	C	C	-	rs561219457		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:43820775delC	ENST00000300231.5	+	4	7554	c.7104delC	c.(7102-7104)aacfs	p.N2368fs	MAP1A_ENST00000399453.1_Frame_Shift_Del_p.N2368fs|MAP1A_ENST00000382031.1_Frame_Shift_Del_p.N2606fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2368					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCCCTAACCCCCCAGGCC	0.642																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(7816-7818)aafs		microtubule-associated protein 1A	Estramustine(DB01196)						27.0	31.0	30.0					15																	43820775		1963	4133	6096	SO:0001589	frameshift_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820775delC	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7104delC	15.37:g.43820775delC	ENSP00000300231:p.Asn2368fs					MAP1A_ENST00000300231.5_Frame_Shift_Del_p.N2368fs|MAP1A_ENST00000399453.1_Frame_Shift_Del_p.N2368fs	p.N2606fs			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7849	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2368					O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Del	DEL	ENST00000300231.5	37	c.7818delC	CCDS42031.1																																																																																				0.642	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		12	38						12	38	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		8	234						8	234	---	---	---	---
TRIM65	201292	broad.mit.edu	37	17	73888194	73888194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:73888194delG	ENST00000269383.3	-	4	882	c.817delC	c.(817-819)ctgfs	p.L273fs		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	273						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTCACCCAGCTGTTGGTCT	0.632																																						ENST00000269383.3																			0				endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(817-819)tgfs		tripartite motif containing 65							20.0	21.0	20.0					17																	73888194		2173	4260	6433	SO:0001589	frameshift_variant	201292					intracellular	zinc ion binding	g.chr17:73888194delG	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.817delC	17.37:g.73888194delG	ENSP00000269383:p.Leu273fs						p.L273fs	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	882	-			273					Q4G0F0|Q6DKJ6|Q9BRP6	Frame_Shift_Del	DEL	ENST00000269383.3	37	c.817delC	CCDS11732.1																																																																																				0.632	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		2	4						2	4	---	---	---	---
